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.K646N

c.1938G>C

Surrounding Variants

1 paper

NM_000179.3

p.K646N

c.1938G>T

1 paper

NM_000179.3

p.K646T

c.1937A>C

11 papers

NM_000179.3

p.K646R

c.1937A>G

2 papers

NM_000179.3

p.L647L

c.1939C>T

1 paper

NM_000179.3

p.K646fs

c.1936_1937fs

1 paper

NM_000179.3

p.S648R

c.1942A>C

3 papers

NM_000179.3

p.S648delFs

c.1943delG

2 papers

NM_000179.3

p.S648fs

c.1942_1943fs

2 papers

NM_000179.3

p.E645fs

c.1933_1934fs

5 papers

NM_000179.3

p.E645*

c.1933G>T

3 papers

NM_000179.3

p.K646delFs

c.1937delA

1 paper

NM_000179.3

p.R644R

c.1932G>A