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.F706_E707del2

c.2116_2120del6

Surrounding Variants

1 paper

NM_000179.3

p.F706insFs

c.2118dupT

1 paper

NM_000179.3

p.F706delFs

c.2118delT

1 paper

NM_000179.3

p.F706fs

c.2116_2117fs

10 papers

NM_000179.3

p.F706S

c.2117T>C

1 paper

NM_001281492.2

p.F576_E577del1

c.1728_1730delTGA

1 paper

NM_000179.3

p.A704G

c.2111C>G

1 paper

NM_000179.3

p.A704V

c.2111C>T

1 paper

NM_000179.3

p.E707K

c.2119G>A

1 paper

NM_000179.3

p.E707fs

c.2119_2120fs

1 paper

NM_000179.3

p.E707E

c.2121A>G

4 papers

NM_000179.3

p.E708*

c.2122G>T

1 paper

NM_000179.3

p.M703insFs

c.2108_2109insCC