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.A393T

c.1177G>A

Surrounding Variants

1 paper

NM_000179.3

p.S394_T395del2

c.1180_1184del6

1 paper

NM_000179.3

p.A393G

c.1178C>G

1 paper

NM_000179.3

p.A393V

c.1178C>T

3 papers

NM_000179.3

p.D392_A393Fs

c.1176_1178delinsGGAAFs

1 paper

NM_000179.3

p.T395_Y397insFs

c.1184_1190dup7

2 papers

NM_000179.3

p.A393_S394del2

c.1177_1181del6

1 paper

NM_000179.3

p.D392N

c.1174G>A

1 paper

NM_000179.3

p.D392fs

c.1174_1175fs

1 paper

NM_000179.3

p.D392fs

c.1174_1175fs

3 papers

NM_000179.3

p.S394A

c.1180T>G

1 paper

NM_000179.3

p.S394F

c.1181C>T

1 paper

NM_000179.3

p.F391insFs

c.1172_1173insA