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.Q236fs

c.706_707fs

Surrounding Variants

1 paper

NM_000179.3

p.Q236fs

c.706_707fs

4 papers

NM_000179.3

p.Q236*

c.706C>T

1 paper

NM_000179.3

p.T235T

c.705A>G

1 paper

NM_000179.3

p.Q236R

c.707A>G

3 papers

NM_000179.3

p.G237delFs

c.710delG

1 paper

NM_000179.3

p.T235fs

c.703_704fs

2 papers

NM_000179.3

p.G237fs

c.709_710fs

2 papers

NM_000179.3

p.G237*

c.709G>T

1 paper

NM_000179.3

p.K234K

c.702G>A

1 paper

NM_000179.3

p.K234_T235insFs

c.702_703insT

3 papers

NM_000179.3

p.Q236delFs

c.706_707delCA

1 paper

NM_000179.3

p.G237_R243delFs

c.711_727del17