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.A23_S24insFs

c.69_70insC

Surrounding Variants

3 papers

NM_000179.3

p.A23T

c.67G>A

3 papers

NM_000179.3

p.A23P

c.67G>C

1 paper

NM_000179.3

p.A23S

c.67G>T

3 papers

NM_000179.3

p.A23delFs

c.68_69delCC

1 paper

NM_000179.3

p.A23G

c.68C>G

2 papers

NM_000179.3

p.A23V

c.68C>T

2 papers

NM_000179.3

p.A23delFs

c.67delG

1 paper

NM_000179.3

p.K22Q

c.64A>C

1 paper

NM_000179.3

p.K22E

c.64A>G

1 paper

NM_000179.3

p.K22*

c.64A>T

1 paper

NM_000179.3

p.N21K

c.63C>A

1 paper

NM_000179.3

p.S24*

c.71C>A