Varaico: Literature-Extracted Genetic Variants

NXF1

130 papers

RefSeq Summary

This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuc...

Pfam Domains

Tap-RNA_bindaa 119–198UCSCTap, RNA-binding

LRR_NXF1-5aa 217–353UCSCNXF1/2/3/5 leucine-rich repeat domain

NXF_NTF2aa 386–537UCSCNuclear RNA export factor, NTF2 domain

TAP_Caa 569–617UCSCTAP C-terminal domain

Gene Aliases

HGNC Name

nuclear RNA export factor 1

HGNC Alias Symbols

Mex67; DKFZp667O0311

Papers

RefSeq ID

Protein change

DNA change

1–12 of 125 variants

4 papers

NM_006362.5

p.L214V

c.640C>G

3 papers

NM_006362.5

p.D56N

c.166G>A

2 papers

NM_006362.5

p.V163I

c.487G>A

2 papers

NM_006362.5

p.R429*

c.1285C>T

2 papers

NM_006362.5

p.R429*

c.1285C>T

2 papers

NM_006362.5

p.Y435fs

c.1303_1304fs

2 papers

NM_006362.5

p.K471R

c.1412A>G

1 paper

NM_006362.5

p.M1insFs

c.2_3insGT

1 paper

NM_006362.5

p.E4K

c.10G>A

1 paper

NM_006362.5

p.K22*

c.64A>T

1 paper

NM_006362.5

p.K23K

c.69G>A

1 paper

NM_006362.5

p.K24fs

c.70_71fs