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.Q132*

c.394C>T

Surrounding Variants

1 paper

NM_000179.3

p.Q132fs

c.394_395fs

1 paper

NM_000179.3

p.Q132E

c.394C>G

2 papers

NM_000179.3

p.Q132fs

c.394_395fs

1 paper

NM_000179.3

p.F134insFs

c.402dupT

1 paper

NM_000179.3

p.F134delFs

c.402delT

1 paper

NM_000179.3

p.F133_F134delFs

c.399_402del4

5 papers

NM_000179.3

p.V131_Q132delFs

c.393_394delAC

1 paper

NM_000179.3

p.F133_S137delFs

c.397_410del14

2 papers

NM_000179.3

p.V131I

c.391G>A

3 papers

NM_000179.3

p.V131fs

c.391_392fs

1 paper

NM_000179.3

p.V131L

c.391G>T

1 paper

NM_000179.3

p.H130Q

c.390T>G