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.W97*

c.291G>A

Surrounding Variants

2 papers

NM_000179.3

p.A98T

c.292G>A

1 paper

NM_000179.3

p.W97*

c.290G>A

1 paper

NM_000179.3

p.A98insFs

c.293_294insC

2 papers

NM_000179.3

p.A98V

c.293C>T

1 paper

NM_000179.3

p.A98_K99delFs

c.294_297del4

1 paper

NM_000179.3

p.W97R

c.289T>A

1 paper

NM_000179.3

p.W97R

c.289T>C

1 paper

NM_000179.3

p.W97G

c.289T>G

1 paper

NM_000179.3

p.W97fs

c.289_290fs

1 paper

NM_000179.3

p.W97delFs

c.290_291delGG

1 paper

NM_000179.3

p.A98A

c.294C>G

1 paper

NM_000179.3

p.K99_G102delFs

c.295_305del11