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

7 papers

NM_000179.3

p.G1157S

c.3469G>A

Surrounding Variants

2 papers

NM_000179.3

p.G1157C

c.3469G>T

2 papers

NM_000179.3

p.C1158del1

c.3472_3473delTGT

4 papers

NM_000179.3

p.G1157D

c.3470G>A

1 paper

NM_000179.3

p.M1156I

c.3468G>A

1 paper

NM_000179.3

p.M1156I

c.3468G>C

1 paper

NM_000179.3

p.M1156I

c.3468G>T

1 paper

NM_000179.3

p.C1158R

c.3472T>C

1 paper

NM_000179.3

p.C1158G

c.3472T>G

1 paper

NM_000179.3

p.Q1155_M1156insFs

c.3465_3466insCT

1 paper

NM_000179.3

p.Y1159insFs

c.3475_3476insT

2 papers

NM_000179.3

p.Y1159delFs

c.3475delT

1 paper

NM_000179.3

p.Q1155R

c.3464A>G