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.K377del1

c.1129_1131delAAG

Surrounding Variants

21 papers

NM_000179.3

p.R379_D380delFs

c.1135_1139del5

1 paper

NM_000179.3

p.K377fs

c.1129_1130fs

1 paper

NM_000179.3

p.E376_R378del0

c.1128_1133del6

1 paper

NM_000179.3

p.R378delFs

c.1133_1134delGA

1 paper

NM_000179.3

p.E376K

c.1126G>A

2 papers

NM_000179.3

p.E376insFs

c.1127_1128ins7

3 papers

NM_000179.3

p.E376*

c.1126G>T

1 paper

NM_000179.3

p.K377delFs

c.1129_1130delAA

2 papers

NM_000179.3

p.E376_R378delFs

c.1128_1132del5

1 paper

NM_000179.3

p.R378fs

c.1132_1133fs

1 paper

NM_000179.3

p.R378R

c.1132A>C

3 papers

NM_000179.3

p.R378fs

c.1132_1133fs