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.P929A

c.2785C>G

Surrounding Variants

3 papers

NM_000179.3

p.P929S

c.2785C>T

2 papers

NM_000179.3

p.P929L

c.2786C>T

1 paper

NM_000179.3

p.T928T

c.2784T>G

2 papers

NM_000179.3

p.T928N

c.2783C>A

2 papers

NM_000179.3

p.T928S

c.2783C>G

2 papers

NM_000179.3

p.T928I

c.2783C>T

1 paper

NM_000179.3

p.T928fs

c.2782_2783fs

1 paper

NM_000179.3

p.K930Q

c.2788A>C

1 paper

NM_000179.3

p.T928fs

c.2782_2783fs

1 paper

NM_000179.3

p.K930R

c.2789A>G

1 paper

NM_000179.3

p.I927M

c.2781T>G

2 papers

NM_000179.3

p.T928_P929del2

c.2782_2786del6