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.L679fs

c.2035_2036fs

Surrounding Variants

1 paper

NM_001281492.2

p.A550_V558delFs

c.1648_1672del25

2 papers

NM_000179.3

p.L679_A680del2

c.2035_2039del6

1 paper

NM_000179.3

p.L679S

c.2036T>C

1 paper

NM_000179.3

p.L679_L681Fs

c.2036_2042delinsGGFs

2 papers

NM_000179.3

p.E678K

c.2032G>A

1 paper

NM_000179.3

p.E678*

c.2032G>T

1 paper

NM_000179.3

p.A680S

c.2038G>T

2 papers

NM_000179.3

p.L681delFs

c.2041delC

2 papers

NM_000179.3

p.A680V

c.2039C>T

1 paper

NM_000179.3

p.S677S

c.2031T>C

2 papers

NM_000179.3

p.A680A

c.2040C>T

2 papers

NM_000179.3

p.S682delFs

c.2044_2045delTC