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.A1339V

c.4016C>T

Surrounding Variants

2 papers

NM_000179.3

p.A1339insFs

c.4015_4016insCT

1 paper

NM_000179.3

p.A1339fs

c.4015_4016fs

1 paper

NM_000179.3

p.A1339S

c.4015G>T

1 paper

NM_000179.3

p.S1340fs

c.4018_4019fs

2 papers

NM_000179.3

p.S1340G

c.4018A>G

1 paper

NM_000179.3

p.S1340C

c.4018A>T

1 paper

NM_000179.3

p.S1340fs

c.4018_4019fs

1 paper

NM_000179.3

p.S1340S

c.4020T>C

1 paper

NM_000179.3

p.R1342delFs

c.4024delA

3 papers

NM_000179.3

p.C1337fs

c.4009_4010fs

1 paper

NM_000179.3

p.R1342fs

c.4024_4025fs

1 paper

NM_000179.3

p.V1336D

c.4007T>A