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

2 papers

NM_004713.6

p.S257C

c.769A>T

Surrounding Variants

1 paper

NM_004713.6

p.I254delFs

c.760delT

1 paper

NM_004713.6

p.D261G

c.782A>G

1 paper

NM_004713.6

p.T269Splc

c.807-2A>C

1 paper

NM_004713.6

p.D293del1

c.877_879delGTC

1 paper

NM_004713.6

p.V296_D297insT

c.886_890ins3

1 paper

NM_004713.6

p.S301F

c.902C>T

1 paper

NM_004713.6

p.K302M

c.905A>T

1 paper

NM_004713.6

p.Y235C

c.704A>G

1 paper

NM_004713.6

p.D234D

c.702C>T

1 paper

NM_004713.6

p.I222_K224delFs

c.665_671del7

1 paper

NM_004713.6

p.G209D

c.626G>A

1 paper

NM_004713.6

p.E204_N205delFs

c.610_613del4