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

3 papers

NM_000179.3

p.R378fs

c.1132_1133fs

Surrounding Variants

1 paper

NM_000179.3

p.R378fs

c.1132_1133fs

1 paper

NM_000179.3

p.R378R

c.1132A>C

2 papers

NM_000179.3

p.R378K

c.1133G>A

1 paper

NM_000179.3

p.R379insFs

c.1135_1136insA

3 papers

NM_000179.3

p.R378_R379delFs

c.1134_1135delAA

1 paper

NM_000179.3

p.D380delFs

c.1138_1139delGA

1 paper

NM_000179.3

p.R379_D380delFs

c.1136_1139del4

3 papers

NM_000179.3

p.R379fs

c.1135_1136fs

1 paper

NM_000179.3

p.K377fs

c.1129_1130fs

1 paper

NM_000179.3

p.R379G

c.1135A>G

18 papers

NM_000179.3

p.R379*

c.1135A>T

1 paper

NM_000179.3

p.R378delFs

c.1133_1134delGA