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.E533fs

c.1597_1598fs

Surrounding Variants

3 papers

NM_000179.3

p.E533K

c.1597G>A

2 papers

NM_000179.3

p.E533*

c.1597G>T

2 papers

NM_000179.3

p.E533fs

c.1597_1598fs

1 paper

NM_000179.3

p.E533A

c.1598A>C

1 paper

NM_000179.3

p.E533delFs

c.1597delG

1 paper

NM_000179.3

p.S532insFs

c.1595_1596insG

2 papers

NM_000179.3

p.S532insFs

c.1596dupT

2 papers

NM_000179.3

p.S532_E533insFs

c.1596_1597dupTG

1 paper

NM_000179.3

p.S532C

c.1595C>G

1 paper

NM_000179.3

p.S532_E533delFs

c.1596_1597delTG

2 papers

NM_000179.3

p.E533D

c.1599G>C

2 papers

NM_000179.3

p.E533D

c.1599G>T