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.D629E

c.1887T>A

Surrounding Variants

1 paper

NM_000179.3

p.D629E

c.1887T>G

6 papers

NM_000179.3

p.D629G

c.1886A>G

1 paper

NM_000179.3

p.A630T

c.1888G>A

1 paper

NM_000179.3

p.D629N

c.1885G>A

1 paper

NM_000179.3

p.A630A

c.1890A>C

7 papers

NM_000179.3

p.W628*

c.1884G>A

1 paper

NM_000179.3

p.W628C

c.1884G>C

1 paper

NM_000179.3

p.W628C

c.1884G>T

7 papers

NM_000179.3

p.W628*

c.1883G>A

2 papers

NM_000179.3

p.S631P

c.1891T>C

1 paper

NM_001281492.2

p.S501ins2

c.1502_1503ins6

1 paper

NM_001281492.2

p.S501ins2

c.1502_1503ins6