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.L473_V474insFs

c.1419_1420dupGG

Surrounding Variants

1 paper

NM_000179.3

p.L473Q

c.1418T>A

1 paper

NM_000179.3

p.L473fs

c.1417_1418fs

1 paper

NM_000179.3

p.L473V

c.1417C>G

16 papers

NM_000179.3

p.V474insFs

c.1421_1422dupTG

1 paper

NM_000179.3

p.L473L

c.1419G>T

1 paper

NM_000179.3

p.V474M

c.1420G>A

1 paper

NM_000179.3

p.V474L

c.1420G>C

1 paper

NM_000179.3

p.V474L

c.1420G>T

1 paper

NM_000179.3

p.V474fs

c.1420_1421fs

1 paper

NM_000179.3

p.S472Y

c.1415C>A

1 paper

NM_000179.3

p.S472F

c.1415C>T

1 paper

NM_000179.3

p.S472_L473delFs

c.1416_1419del4