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.Y690*

c.2070C>A

Surrounding Variants

1 paper

NM_000179.3

p.Y690*

c.2070C>G

1 paper

NM_000179.3

p.Y690Y

c.2070C>T

2 papers

NM_000179.3

p.L691fs

c.2071_2072fs

1 paper

NM_000179.3

p.L691F

c.2071C>T

1 paper

NM_000179.3

p.L691P

c.2072T>C

1 paper

NM_000179.3

p.L691Fs

c.2072_2073delinsATTAFs

2 papers

NM_000179.3

p.L691delFs

c.2073delC

10 papers

NM_000179.3

p.K693insFs

c.2079dupA

5 papers

NM_000179.3

p.K693delFs

c.2079delA

1 paper

NM_000179.3

p.K692Q

c.2074A>C

1 paper

NM_001281492.2

p.F559Y

c.1676T>A

1 paper

NM_001281492.2

p.F559S

c.1676T>C