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.S87R

c.261T>A

Surrounding Variants

1 paper

NM_000179.3

p.S87R

c.261T>G

1 paper

NM_000179.3

p.S87Splc

c.261-1G>A

2 papers

NM_000179.3

p.S87Splc

c.261-1G>C

1 paper

NM_000179.3

p.C88delFs

c.263delG

5 papers

NM_000179.3

p.C88Y

c.263G>A

1 paper

NM_000179.3

p.C88_D89insFs

c.264_265insT

1 paper

NM_000179.3

p.C88F

c.263G>T

1 paper

NM_000179.3

p.S87Splc

c.261-3C>T

1 paper

NM_000179.3

p.C88C

c.264T>C

1 paper

NM_000179.3

p.D89H

c.265G>C

8 papers

NM_000179.3

p.D89Y

c.265G>T

2 papers

NM_000179.3

p.F90Y

c.269T>A