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.A457fs

c.1369_1370fs

Surrounding Variants

1 paper

NM_000179.3

p.A457T

c.1369G>A

4 papers

NM_000179.3

p.A457P

c.1369G>C

2 papers

NM_000179.3

p.A457V

c.1370C>T

7 papers

NM_000179.3

p.W456*

c.1368G>A

8 papers

NM_000179.3

p.W456*

c.1367G>A

1 paper

NM_000179.3

p.H458fs

c.1372_1373fs

4 papers

NM_000179.3

p.H458Y

c.1372C>T

1 paper

NM_000179.3

p.H458fs

c.1372_1373fs

1 paper

NM_000179.3

p.A457delFs

c.1369delG

1 paper

NM_000179.3

p.W456delFs

c.1366delT

2 papers

NM_000179.3

p.N455T

c.1364A>C

1 paper

NM_000179.3

p.N455I

c.1364A>T