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

2 papers

NM_002136.4

p.F296L

c.888T>A

Surrounding Variants

2 papers

NM_002136.4

p.F296L

c.888T>G

2 papers

NM_002136.4

p.F296L

c.886T>C

2 papers

NM_002136.4

p.Y295C

c.884A>G

2 papers

NM_002136.4

p.P299L

c.896C>T

1 paper

NM_002136.4

p.R300*

c.898C>T

1 paper

NM_002136.4

p.R300R

c.900A>G

2 papers

NM_002136.4

p.N301D

c.901A>G

1 paper

NM_002136.4

p.N301S

c.902A>G

1 paper

NM_031157.4

p.Y341*

c.1023T>A

1 paper

NM_031157.4

p.Y341*

c.1023T>G

6 papers

NM_031157.4

p.P340A

c.1018C>G

NM_002136.4

p.P288A

c.862C>G

8 papers

NM_031157.4

p.P340S

c.1018C>T

NM_002136.4

p.P288S

c.862C>T