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.L423insFs

c.1269dupT

Surrounding Variants

1 paper

NM_000179.3

p.L423F

c.1267C>T

1 paper

NM_000179.3

p.L423L

c.1269T>G

2 papers

NM_000179.3

p.D422N

c.1264G>A

1 paper

NM_000179.3

p.V424insFs

c.1270_1271insA

1 paper

NM_000179.3

p.V424fs

c.1270_1271fs

1 paper

NM_000179.3

p.F421L

c.1263T>A

1 paper

NM_000179.3

p.V424A

c.1271T>C

2 papers

NM_000179.3

p.V424G

c.1271T>G

1 paper

NM_000179.3

p.F421L

c.1263T>G

1 paper

NM_000179.3

p.I425fs

c.1273_1274fs

7 papers

NM_000179.3

p.I425V

c.1273A>G

2 papers

NM_000179.3

p.I425_C426delFs

c.1275_1276delCT