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.F1222V

c.3664T>G

Surrounding Variants

1 paper

NM_000179.3

p.F1222_A1226del5

c.3664_3677del15

1 paper

NM_000179.3

p.A1220_T1221insFs

c.3660_3663dup4

1 paper

NM_000179.3

p.D1223_G1224insFs

c.3669_3670ins4

1 paper

NM_000179.3

p.D1223_G1224insFs

c.3669_3670ins25

2 papers

NM_000179.3

p.A1220T

c.3658G>A

1 paper

NM_000179.3

p.T1219N

c.3656C>A

38 papers

NM_000179.3

p.T1219I

c.3656C>T

3 papers

NM_000179.3

p.T1225fs

c.3673_3674fs

1 paper

NM_000179.3

p.T1225P

c.3673A>C

1 paper

NM_000179.3

p.T1225A

c.3673A>G

1 paper

NM_000179.3

p.T1225delFs

c.3674delC

1 paper

NM_000179.3

p.T1225K

c.3674C>A