KEGG VARIANT: 2956v1

VARIANT: 2956v1

Entry

2956v1                      Variant

Name

MSH6 mutation

Type

Loss of function

Gene

MSH6 mutS homolog 6 [KO:K08737]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 600678

Network

nt06503 Mismatch repair

Disease

Hereditary nonpolyposis colorectal cancer

Reference

Authors

Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T

Title

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

Journal

Nat Genet 17:271-2 (1997)
DOI:10.1038/ng1197-271

Reference

Authors

Frederiksen JH, Jensen SB, Tumer Z, Hansen TVO

Title

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Journal

Int J Mol Sci 22:8627 (2021)
DOI:10.3390/ijms22168627

LinkDB

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