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

5 papers

NM_000179.3

p.R1217G

c.3649A>G

Surrounding Variants

1 paper

NM_000179.3

p.R1217fs

c.3649_3650fs

7 papers

NM_000179.3

p.R1217fs

c.3649_3650fs

1 paper

NM_000179.3

p.R1217K

c.3650G>A

1 paper

NM_001281492.2

p.R1087insFs

c.3261dupA

1 paper

NM_000179.3

p.G1218delFs

c.3653delG

1 paper

NM_000179.3

p.R1217_G1218Fs

c.3651_3654delinsCTCFs

1 paper

NM_000179.3

p.G1216E

c.3647G>A

1 paper

NM_000179.3

p.R1217delFs

c.3649delA

13 papers

NM_000179.3

p.G1216Splc

c.3647-1G>A

1 paper

NM_000179.3

p.G1218S

c.3652G>A

1 paper

NM_000179.3

p.G1218R

c.3652G>C

1 paper

NM_000179.3

p.G1218C

c.3652G>T