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.T235_G237delFs

c.703_709del7

Surrounding Variants

1 paper

NM_000179.3

p.K234fs

c.700_701fs

1 paper

NM_000179.3

p.P233R

c.698C>G

1 paper

NM_000179.3

p.P233L

c.698C>T

1 paper

NM_000179.3

p.P233delFs

c.699delT

2 papers

NM_000179.3

p.P233fs

c.697_698fs

3 papers

NM_000179.3

p.P233S

c.697C>T

1 paper

NM_000179.3

p.P233fs

c.697_698fs

1 paper

NM_000179.3

p.K234K

c.702G>A

1 paper

NM_000179.3

p.P233insFs

c.698dupC

1 paper

NM_000179.3

p.K234_T235insFs

c.702_703insT

3 papers

NM_000179.3

p.Q236delFs

c.706_707delCA

1 paper

NM_000179.3

p.P233delFs

c.698delC