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.K873delFs

c.2618delT

Surrounding Variants

1 paper

NM_004713.6

p.K873fs

c.2617_2618fs

1 paper

NM_004713.6

p.R870*

c.2608C>T

2 papers

NM_004713.6

p.L839_E840delFs

c.2517_2520del4

2 papers

NM_004713.6

p.G841fs

c.2521_2522fs

1 paper

NM_004713.6

p.A838V

c.2513C>T

1 paper

NM_004713.6

p.E837insFs

c.2509dupG

1 paper

NM_004713.6

p.S833L

c.2498C>T

2 papers

NM_004713.6

p.P830T

c.2488C>A

1 paper

NM_004713.6

p.L829F

c.2485C>T

1 paper

NM_004713.6

p.S817delFs

c.2451delT

1 paper

NM_004713.6

p.S817fs

c.2449_2450fs

1 paper

NM_004713.6

p.H815L

c.2444A>T