Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.Y427delFs

c.1280delA

Surrounding Variants

1 paper

NM_000179.3

p.Y427D

c.1279T>G

1 paper

NM_000179.3

p.Y427fs

c.1279_1280fs

1 paper

NM_000179.3

p.Y427*

c.1281C>A

1 paper

NM_000179.3

p.Y427*

c.1281C>G

1 paper

NM_000179.3

p.K428_V429insC

c.1282_1286ins3

2 papers

NM_000179.3

p.K428E

c.1282A>G

NM_001281492.2

p.K298E

c.892A>G

1 paper

NM_000179.3

p.C426fs

c.1276_1277fs

2 papers

NM_000179.3

p.I425I

c.1275C>A

2 papers

NM_000179.3

p.C426delFs

c.1276delT

1 paper

NM_000179.3

p.I425S

c.1274T>G

1 paper

NM_001281492.2

p.I295delFs

c.885delC

1 paper

NM_000179.3

p.I425fs

c.1273_1274fs