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.S817delFs

c.2451delT

Surrounding Variants

1 paper

NM_004713.6

p.S817fs

c.2449_2450fs

1 paper

NM_004713.6

p.H815L

c.2444A>T

1 paper

NM_004713.6

p.R813W

c.2437C>T

1 paper

NM_004713.6

p.Q811fs

c.2431_2432fs

1 paper

NM_004713.6

p.Q811delFs

c.2431_2432delTG

1 paper

NM_004713.6

p.L796M

c.2386T>A

1 paper

NM_004713.6

p.Q790fs

c.2368_2369fs

1 paper

NM_004713.6

p.Q790delFs

c.2368_2369delTG

1 paper

NM_004713.6

p.H786D

c.2356C>G

1 paper

NM_004713.6

p.S785F

c.2354C>T

1 paper

NM_004713.6

p.E773K

c.2317G>A

1 paper

NM_004713.6

p.S748C

c.2243C>G