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.M410_C426delFs

c.1229_1277del49

Surrounding Variants

1 paper

NM_000179.3

p.M410_C426del0

c.1229_1276del48

1 paper

NM_000179.3

p.M410T

c.1229T>C

4 papers

NM_000179.3

p.G409E

c.1226G>A

1 paper

NM_000179.3

p.M410I

c.1230G>A

1 paper

NM_000179.3

p.G409_M410insFs

c.1227_1228dupGA

1 paper

NM_000179.3

p.R411insFs

c.1231_1232insT

2 papers

NM_000179.3

p.R411G

c.1231A>G

1 paper

NM_000179.3

p.R411W

c.1231A>T

2 papers

NM_000179.3

p.R411delins

c.1232_1233delinsTT

1 paper

NM_000179.3

p.G409_N420delFs

c.1225_1259del35

2 papers

NM_000179.3

p.P408R

c.1223C>G

2 papers

NM_000179.3

p.P408L

c.1223C>T