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

4 papers

NM_000179.3

p.M492del1

c.1474_1476delATG

Surrounding Variants

1 paper

NM_000179.3

p.E490K

c.1468G>A

1 paper

NM_000179.3

p.M491T

c.1472T>C

1 paper

NM_000179.3

p.M491insFs

c.1472_1473insA

2 papers

NM_000179.3

p.P489P

c.1467A>C

1 paper

NM_000179.3

p.M492insFs

c.1474dupA

12 papers

NM_000179.3

p.M492V

c.1474A>G

1 paper

NM_000179.3

p.E493insFs

c.1477dupG

1 paper

NM_000179.3

p.M492I

c.1476G>A

1 paper

NM_000179.3

p.M492I

c.1476G>C

1 paper

NM_000179.3

p.M492I

c.1476G>T

1 paper

NM_000179.3

p.P489insFs

c.1465_1466insC

1 paper

NM_000179.3

p.T488N

c.1463C>A