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.I1079N

c.3236T>A

Surrounding Variants

1 paper

NM_000179.3

p.I1079T

c.3236T>C

8 papers

NM_000179.3

p.L1080delFs

c.3238_3239delCT

1 paper

NM_000179.3

p.I1079fs

c.3235_3236fs

1 paper

NM_000179.3

p.I1079delFs

c.3236_3237delTT

1 paper

NM_000179.3

p.L1080delFs

c.3238delC

2 papers

NM_000179.3

p.L1080fs

c.3238_3239fs

1 paper

NM_000179.3

p.L1080V

c.3238C>G

4 papers

NM_000179.3

p.L1080fs

c.3238_3239fs

1 paper

NM_000179.3

p.V1078E

c.3233T>A

1 paper

NM_000179.3

p.V1078A

c.3233T>C

1 paper

NM_000179.3

p.L1080P

c.3239T>C

2 papers

NM_000179.3

p.V1078L

c.3232G>C