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

3 papers

NM_000179.3

p.Y524fs

c.1570_1571fs

Surrounding Variants

5 papers

NM_000179.3

p.Y524insFs

c.1571dupA

1 paper

NM_000179.3

p.Y524insFs

c.1570_1571insC

5 papers

NM_000179.3

p.Y524_S525delFs

c.1572_1573delCA

8 papers

NM_000179.3

p.Y524*

c.1572C>A

9 papers

NM_000179.3

p.Y524*

c.1572C>G

1 paper

NM_000179.3

p.T523delFs

c.1569delT

1 paper

NM_000179.3

p.T523_Y524delFs

c.1569_1570delTT

1 paper

NM_000179.3

p.S525_V526insFs

c.1575_1578dup4

1 paper

NM_000179.3

p.S525G

c.1573A>G

1 paper

NM_000179.3

p.S525ins1

c.1574_1575insTCA

2 papers

NM_000179.3

p.T523_Y524delFs

c.1569_1572del4

5 papers

NM_000179.3

p.Q522R

c.1565A>G