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.S394F

c.1181C>T

Surrounding Variants

3 papers

NM_000179.3

p.S394A

c.1180T>G

1 paper

NM_000179.3

p.T395_L396delFs

c.1185_1186delAC

1 paper

NM_000179.3

p.T395_Y397insFs

c.1184_1190dup7

1 paper

NM_000179.3

p.T395insFs

c.1185dupA

1 paper

NM_000179.3

p.A393G

c.1178C>G

1 paper

NM_000179.3

p.A393V

c.1178C>T

1 paper

NM_000179.3

p.T395I

c.1184C>T

1 paper

NM_000179.3

p.T395T

c.1185A>G

1 paper

NM_000179.3

p.L396_Y397delFs

c.1188_1189delCT

1 paper

NM_000179.3

p.A393T

c.1177G>A

1 paper

NM_000179.3

p.S394_T395del2

c.1180_1184del6

1 paper

NM_000179.3

p.L396fs

c.1186_1187fs