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

Selected Variant

2 papers

NM_006362.5

p.K471R

c.1412A>G

Surrounding Variants

1 paper

NM_006362.5

p.L469F

c.1407G>T

1 paper

NM_006362.5

p.L469F

c.1407G>C

1 paper

NM_006362.5

p.Q473*

c.1417C>T

1 paper

NM_006362.5

p.D475N

c.1423G>A

1 paper

NM_006362.5

p.N467S

c.1400A>G

1 paper

NM_006362.5

p.N477S

c.1430A>G

1 paper

NM_006362.5

p.T449Splc

c.1346-1G>A

1 paper

NM_006362.5

p.T449Splc

c.1345+2T>A

1 paper

NM_006362.5

p.T449Splc

c.1345+1G>C

1 paper

NM_006362.5

p.L490*

c.1469T>A

1 paper

NM_006362.5

p.K443E

c.1327A>G

1 paper

NM_006362.5

p.A433_S439delFs

c.1299_1317del19