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

2 papers

NM_000179.3

p.A1162del1

c.3484_3485delGCT

Surrounding Variants

1 paper

NM_000179.3

p.P1161L

c.3482C>T

1 paper

NM_000179.3

p.P1161_V1164delFs

c.3481_3491del11

10 papers

NM_000179.3

p.V1160I

c.3478G>A

3 papers

NM_000179.3

p.A1162P

c.3484G>C

1 paper

NM_000179.3

p.V1160F

c.3478G>T

23 papers

NM_000179.3

p.Y1159*

c.3477C>A

1 paper

NM_000179.3

p.A1162D

c.3485C>A

22 papers

NM_000179.3

p.Y1159*

c.3477C>G

3 papers

NM_000179.3

p.Y1159Y

c.3477C>T

1 paper

NM_000179.3

p.A1162V

c.3485C>T

7 papers

NM_000179.3

p.Y1159delFs

c.3477delC

1 paper

NM_000179.3

p.A1162A

c.3486T>A