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.I442delFs

c.1326delT

Surrounding Variants

1 paper

NM_000179.3

p.I442fs

c.1324_1325fs

1 paper

NM_000179.3

p.L441L

c.1323T>A

2 papers

NM_000179.3

p.I442T

c.1325T>C

1 paper

NM_000179.3

p.L441_I442insFs

c.1323_1324ins4

1 paper

NM_000179.3

p.L441H

c.1322T>A

1 paper

NM_000179.3

p.L441P

c.1322T>C

1 paper

NM_000179.3

p.G443insFs

c.1328dupG

2 papers

NM_000179.3

p.L441F

c.1321C>T

1 paper

NM_000179.3

p.G443R

c.1327G>A

1 paper

NM_000179.3

p.G443R

c.1327G>C

1 paper

NM_000179.3

p.G443E

c.1328G>A

1 paper

NM_000179.3

p.V444fs

c.1330_1331fs