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

2 papers

NM_000179.3

p.E230fs

c.688_689fs

Surrounding Variants

3 papers

NM_000179.3

p.E230K

c.688G>A

1 paper

NM_000179.3

p.E230fs

c.688_689fs

1 paper

NM_000179.3

p.E230*

c.688G>T

3 papers

NM_000179.3

p.E229G

c.686A>G

6 papers

NM_000179.3

p.V231delFs

c.691delG

4 papers

NM_001281492.2

p.E99delFs

c.297delG

NM_000179.3

p.E230delFs

c.688delG

3 papers

NM_000179.3

p.E229K

c.685G>A

1 paper

NM_000179.3

p.V231I

c.691G>A

1 paper

NM_000179.3

p.E229insFs

c.685_686ins4

2 papers

NM_001281492.2

p.E99fs

c.295_296fs

NM_000179.3

p.E229fs

c.685_686fs

1 paper

NM_000179.3

p.V231fs

c.691_692fs

1 paper

NM_000179.3

p.V231L

c.691G>T