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

6 papers

NM_000179.3

p.Q657*

c.1969C>T

Surrounding Variants

2 papers

NM_000179.3

p.Q657fs

c.1969_1970fs

1 paper

NM_000179.3

p.Q657fs

c.1969_1970fs

1 paper

NM_000179.3

p.Q657P

c.1970A>C

2 papers

NM_000179.3

p.P656P

c.1968C>G

1 paper

NM_000179.3

p.Q657_G661del5

c.1969_1982del15

5 papers

NM_000179.3

p.P656L

c.1967C>T

1 paper

NM_000179.3

p.P656S

c.1966C>T

1 paper

NM_000179.3

p.V658_L659delFs

c.1974_1977del4

1 paper

NM_000179.3

p.L655F

c.1965A>C

1 paper

NM_000179.3

p.L655F

c.1965A>T

3 papers

NM_000179.3

p.Q657delFs

c.1969delC

1 paper

NM_000179.3

p.V658V

c.1974G>A