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

2 papers

NM_000179.3

p.S611insFs

c.1831dupA

Surrounding Variants

4 papers

NM_000179.3

p.K610N

c.1830G>C

4 papers

NM_000179.3

p.K610N

c.1830G>T

1 paper

NM_000179.3

p.S611R

c.1831A>C

1 paper

NM_000179.3

p.S612_C615del4

c.1834_1844del12

4 papers

NM_000179.3

p.K610E

c.1828A>G

1 paper

NM_000179.3

p.S611N

c.1832G>A

1 paper

NM_000179.3

p.S611insFs

c.1833dupT

1 paper

NM_000179.3

p.S611R

c.1833T>A

1 paper

NM_000179.3

p.S611R

c.1833T>G

1 paper

NM_000179.3

p.S612_L613delins

c.1834_1837delinsT

1 paper

NM_000179.3

p.S612fs

c.1834_1835fs

1 paper

NM_000179.3

p.K610delFs

c.1828delA