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.R97R

c.289A>C

Surrounding Variants

4 papers

NM_004713.6

p.D96A

c.287A>C

1 paper

NM_004713.6

p.R86_G94delFs

c.256_281del26

1 paper

NM_004713.6

p.V99insFs

c.296_297insT

1 paper

NM_004713.6

p.D100G

c.299A>G

1 paper

NM_004713.6

p.K91E

c.271A>G

10 papers

NM_004713.6

p.R86S

c.258A>T

10 papers

NM_004713.6

p.R86S

c.258A>C

1 paper

NM_004713.6

p.L112F

c.336A>T

1 paper

NM_004713.6

p.D126H

c.376G>C

1 paper

NM_004713.6

p.S72F

c.215C>T

1 paper

NM_004713.6

p.V130I

c.388G>A

1 paper

NM_004713.6

p.N133I

c.398A>T