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

3 papers

NM_000179.3

p.Y8*

c.24C>A

Surrounding Variants

4 papers

NM_000179.3

p.Y8*

c.24C>G

2 papers

NM_000179.3

p.Y8Y

c.24C>T

2 papers

NM_000179.3

p.S9insFs

c.26dupG

1 paper

NM_000179.3

p.Y8ins8

c.23_24ins24

1 paper

NM_000179.3

p.Y8C

c.23A>G

1 paper

NM_000179.3

p.S9G

c.25A>G

1 paper

NM_000179.3

p.S9C

c.25A>T

1 paper

NM_000179.3

p.Y8N

c.22T>A

1 paper

NM_000179.3

p.Y8H

c.22T>C

2 papers

NM_000179.3

p.Y8_S9insFs

c.23_26dup4

1 paper

NM_000179.3

p.Y8fs

c.22_23fs

2 papers

NM_000179.3

p.Y8_S9delFs

c.23_26del4