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.F391I

c.1171T>A

Surrounding Variants

1 paper

NM_000179.3

p.F391fs

c.1171_1172fs

1 paper

NM_000179.3

p.F391fs

c.1171_1172fs

3 papers

NM_000179.3

p.D390D

c.1170T>C

1 paper

NM_000179.3

p.F391insFs

c.1172_1173insA

1 paper

NM_000179.3

p.D390insFs

c.1169_1170ins20

2 papers

NM_000179.3

p.D390delFs

c.1170delT

1 paper

NM_000179.3

p.D390_F391delFs

c.1170_1171delTT

8 papers

NM_000179.3

p.D390N

c.1168G>A

1 paper

NM_000179.3

p.D392N

c.1174G>A

2 papers

NM_000179.3

p.D390fs

c.1168_1169fs

1 paper

NM_000179.3

p.D392fs

c.1174_1175fs

4 papers

NM_000179.3

p.D390Fs

c.1168_1170delinsAAFs