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.S14insFs

c.41_42ins4

Surrounding Variants

5 papers

NM_000179.3

p.S14_P15insFs

c.42_43insT

6 papers

NM_000179.3

p.S14F

c.41C>T

1 paper

NM_000179.3

p.S14A

c.40T>G

1 paper

NM_000179.3

p.P15insFs

c.43dupC

1 paper

NM_000179.3

p.P15delFs

c.43_44delCC

1 paper

NM_000179.3

p.S14_P15delFs

c.41_44del4

1 paper

NM_000179.3

p.P15T

c.43C>A

5 papers

NM_000179.3

p.P15S

c.43C>T

1 paper

NM_000179.3

p.K13N

c.39G>C

1 paper

NM_000179.3

p.K13_S14ins1

c.39_40insGGC

8 papers

NM_000179.3

p.K13T

c.38A>C

2 papers

NM_000179.3

p.K13R

c.38A>G