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.S677S

c.2031T>C

Surrounding Variants

2 papers

NM_000179.3

p.E678K

c.2032G>A

2 papers

NM_000179.3

p.S677T

c.2030G>C

1 paper

NM_000179.3

p.E678*

c.2032G>T

2 papers

NM_000179.3

p.S677fs

c.2029_2030fs

1 paper

NM_000179.3

p.K676N

c.2028A>C

2 papers

NM_000179.3

p.K676N

c.2028A>T

2 papers

NM_000179.3

p.L679_A680del2

c.2035_2039del6

3 papers

NM_000179.3

p.K676R

c.2027A>G

1 paper

NM_000179.3

p.L679fs

c.2035_2036fs

1 paper

NM_001281492.2

p.A550_V558delFs

c.1648_1672del25

1 paper

NM_000179.3

p.K676Q

c.2026A>C

1 paper

NM_000179.3

p.K676E

c.2026A>G