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.D135E

c.405T>G

Surrounding Variants

2 papers

NM_000179.3

p.D135E

c.405T>A

1 paper

NM_000179.3

p.D136del1

c.406_407delGAC

1 paper

NM_000179.3

p.D135N

c.403G>A

1 paper

NM_000179.3

p.D135fs

c.403_404fs

1 paper

NM_000179.3

p.D136E

c.408C>A

1 paper

NM_000179.3

p.D136E

c.408C>G

1 paper

NM_000179.3

p.S137_P138del2

c.409_413del6

1 paper

NM_000179.3

p.S137_R140delFs

c.409_418del10

1 paper

NM_000179.3

p.F134L

c.402T>A

1 paper

NM_000179.3

p.F134L

c.402T>G

1 paper

NM_000179.3

p.D135delFs

c.403delG

1 paper

NM_000179.3

p.F134S

c.401T>C