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

2 papers

NM_000179.3

p.P38insFs

c.114dupC

Surrounding Variants

2 papers

NM_000179.3

p.A37T

c.109G>A

1 paper

NM_000179.3

p.A37P

c.109G>C

1 paper

NM_000179.3

p.A37_P38insCC

c.109_113ins6

2 papers

NM_000179.3

p.P38delFs

c.114delC

2 papers

NM_000179.3

p.A37delins

c.109_110delinsTA

1 paper

NM_000179.3

p.P38delFs

c.112_113delCC

2 papers

NM_000179.3

p.A37V

c.110C>T

1 paper

NM_000179.3

p.P38_P42delFs

c.112_124del13

1 paper

NM_000179.3

p.A36A

c.108T>A

2 papers

NM_000179.3

p.A36A

c.108T>G

19 papers

NM_000179.3

p.A36V

c.107C>T

1 paper

NM_000179.3

p.A37A

c.111C>T