Varaico: Literature-Extracted Genetic Variants

HNRNPA1

381 papers

RefSeq Summary

This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and infl...

Pfam Domains

RRM_1aa 16–85UCSCRNA recognition motif

RRM_1aa 107–176UCSCRNA recognition motif

HnRNPA1_LCaa 307–344UCSCHeterogeneous nuclear ribonucleoprotein A1, LC domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein A1

HGNC Previous Symbol

HNRPA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002136.4

p.S252I

c.755G>T

Surrounding Variants

3 papers

NM_002136.4

p.S252N

c.755G>A

NM_031157.4

p.S304N

c.911G>A

1 paper

NM_031157.4

p.N305S

c.914A>G

1 paper

NM_031157.4

p.G303Splc

c.908-2A>G

1 paper

NM_031157.4

p.G309insFs

c.925_926ins7

1 paper

NM_031157.4

p.G310R

c.928G>A

1 paper

NM_031157.4

p.G310insFs

c.928_929ins7

1 paper

NM_031157.4

p.G310insFs

c.929_930ins4

1 paper

NM_031157.4

p.S311insFs

c.931_932insAG

1 paper

NM_002136.4

p.S259G

c.775A>G

1 paper

NM_031157.4

p.S311fs

c.931_932fs

1 paper

NM_031157.4

p.N313D

c.937A>G

20 papers

NM_031157.4

p.D314N

c.940G>A

NM_002136.4

p.D262N

c.784G>A