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

1–12 of 134 variants

10 papers

NM_004713.6

p.R86S

c.258A>T

10 papers

NM_004713.6

p.R86S

c.258A>C

4 papers

NM_004713.6

p.D96A

c.287A>C

2 papers

NM_004713.6

p.R138Q

c.413G>A

2 papers

NM_004713.6

p.D144Y

c.430G>T

2 papers

NM_004713.6

p.S257C

c.769A>T

2 papers

NM_004713.6

p.N412insFs

c.1235_1236insC

2 papers

NM_004713.6

p.P413fs

c.1237_1238fs

2 papers

NM_004713.6

p.I553T

c.1658T>C

2 papers

NM_004713.6

p.P830T

c.2488C>A

2 papers

NM_004713.6

p.L839_E840delFs

c.2517_2520del4

2 papers

NM_004713.6

p.G841fs

c.2521_2522fs