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.E141D

c.423G>T

Surrounding Variants

2 papers

NM_004713.6

p.D144Y

c.430G>T

2 papers

NM_004713.6

p.R138Q

c.413G>A

1 paper

NM_004713.6

p.N133I

c.398A>T

1 paper

NM_004713.6

p.E151_R152delFs

c.453_454delGT

1 paper

NM_004713.6

p.V130I

c.388G>A

1 paper

NM_004713.6

p.Y153C

c.458A>G

1 paper

NM_004713.6

p.D126H

c.376G>C

1 paper

NM_004713.6

p.H157R

c.470A>G

1 paper

NM_004713.6

p.T166I

c.497C>T

1 paper

NM_004713.6

p.R169Splc

c.507-2A>T

1 paper

NM_004713.6

p.P192Splc

c.574+1G>T

1 paper

NM_004713.6

p.L112F

c.336A>T