Varaico: Literature-Extracted Genetic Variants

NEMF

92 papers

RefSeq Summary

This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A si...

Pfam Domains

NFACT_Naa 6–389UCSCNFACT N-terminal and middle domains

NFACT-R_1aa 529–639UCSCNFACT protein RNA binding domain

NFACT-Caa 973–1066UCSCNFACT protein C-terminal domain

Gene Aliases

HGNC Name

nuclear export mediator factor

HGNC Previous Symbol

SDCCAG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004713.6

p.K452R

c.1355A>G

Surrounding Variants

1 paper

NM_004713.6

p.P453_Q454del2

c.1357_1361del6

1 paper

NM_004713.6

p.K448E

c.1342A>G

1 paper

NM_004713.6

p.S466N

c.1397G>A

1 paper

NM_004713.6

p.G426C

c.1276G>T

2 papers

NM_004713.6

p.P413fs

c.1237_1238fs

2 papers

NM_004713.6

p.N412insFs

c.1235_1236insC

1 paper

NM_004713.6

p.N412fs

c.1234_1235fs

1 paper

NM_004713.6

p.N412insFs

c.1234_1235insC

1 paper

NM_004713.6

p.M408T

c.1223T>C

1 paper

NM_004713.6

p.P391H

c.1172C>A

1 paper

NM_004713.6

p.V382M

c.1144G>A

1 paper

NM_004713.6

p.Q363H

c.1089G>T