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.L1063delFs

c.3189delG

Surrounding Variants

9 papers

NM_000179.3

p.L1063R

c.3188T>G

1 paper

NM_000179.3

p.L1063M

c.3187C>A

2 papers

NM_000179.3

p.L1063V

c.3187C>G

1 paper

NM_000179.3

p.L1063L

c.3187C>T

1 paper

NM_000179.3

p.C1062*

c.3186C>A

3 papers

NM_000179.3

p.A1064T

c.3190G>A

1 paper

NM_000179.3

p.A1064P

c.3190G>C

1 paper

NM_000179.3

p.A1064fs

c.3190_3191fs

2 papers

NM_000179.3

p.A1064V

c.3191C>T

1 paper

NM_000179.3

p.C1062Y

c.3185G>A

2 papers

NM_000179.3

p.C1062F

c.3185G>T

5 papers

NM_000179.3

p.N1065fs

c.3193_3194fs