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.I251V

c.751A>G

Surrounding Variants

1 paper

NM_000179.3

p.I251I

c.753A>T

6 papers

NM_000179.3

p.V250A

c.749T>C

3 papers

NM_000179.3

p.S252A

c.754T>G

5 papers

NM_000179.3

p.S252*

c.755C>A

5 papers

NM_000179.3

p.S252*

c.755C>G

1 paper

NM_000179.3

p.S252L

c.755C>T

1 paper

NM_000179.3

p.D253delFs

c.757_758delGA

2 papers

NM_000179.3

p.R249S

c.747G>C

2 papers

NM_000179.3

p.R249S

c.747G>T

1 paper

NM_000179.3

p.R249M

c.746G>T

1 paper

NM_000179.3

p.D253N

c.757G>A

1 paper

NM_000179.3

p.D253fs

c.757_758fs