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.P1110delFs

c.3328_3329delCC

Surrounding Variants

1 paper

NM_000179.3

p.P1110T

c.3328C>A

1 paper

NM_000179.3

p.P1110S

c.3328C>T

1 paper

NM_000179.3

p.P1110fs

c.3328_3329fs

2 papers

NM_000179.3

p.I1109fs

c.3325_3326fs

9 papers

NM_000179.3

p.D1112insFs

c.3335_3336ins4

2 papers

NM_000179.3

p.N1111_D1112delFs

c.3331_3334del4

1 paper

NM_000179.3

p.I1109_N1111delFs

c.3325_3332del8

1 paper

NM_000179.3

p.N1111_I1115delFs

c.3333_3345del13

1 paper

NM_000179.3

p.F1108_I1109Fs

c.3323_3325delinsCFs

1 paper

NM_000179.3

p.D1112del1

c.3334_3336delGAC

2 papers

NM_000179.3

p.F1108_I1109insFs

c.3324_3325insT

1 paper

NM_000179.3

p.F1108delFs

c.3323delT