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.S261fs

c.781_782fs

Surrounding Variants

1 paper

NM_000179.3

p.S261P

c.781T>C

2 papers

NM_000179.3

p.G260G

c.780C>G

1 paper

NM_000179.3

p.S261C

c.782C>G

1 paper

NM_000179.3

p.S261F

c.782C>T

1 paper

NM_000179.3

p.S261delFs

c.781delT

1 paper

NM_000179.3

p.G260S

c.778G>A

1 paper

NM_000179.3

p.D262N

c.784G>A

1 paper

NM_000179.3

p.D262H

c.784G>C

1 paper

NM_000179.3

p.G260fs

c.778_779fs

2 papers

NM_000179.3

p.G260C

c.778G>T

2 papers

NM_000179.3

p.D262Y

c.784G>T

1 paper

NM_000179.3

p.D262G

c.785A>G