Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPA2B1
Variant:p.E130Q

HNRNPA2B1

157 papers

RefSeq Summary

This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA ...

Pfam Domains

RRM_1aa 23–92UCSCRNA recognition motif
RRM_1aa 114–183UCSCRNA recognition motif
HnRNPA1_LCaa 295–334UCSCHeterogeneous nuclear ribonucleoprotein A1, LC domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein A2/B1

HGNC Previous Symbol

HNRPA2B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002137.4
p.E130Q
c.388G>C
Surrounding Variants
1 paper
NM_002137.4
p.E130K
c.388G>A
2 papers
NM_002137.4
p.T128S
c.382A>T
1 paper
NM_002137.4
p.D127V
c.380A>T
1 paper
NM_002137.4
p.E121K
c.361G>A
1 paper
NM_002137.4
p.R141T
c.422G>C
1 paper
NM_002137.4
p.G142R
c.424G>C
1 paper
NM_002137.4
p.E112Q
c.334G>C
1 paper
NM_002137.4
p.D150E
c.450C>G
1 paper
NM_002137.4
p.D150E
c.450C>A
1 paper
NM_002137.4
p.K108I
c.323A>T
1 paper
NM_002137.4
p.K156_I157delFs
c.468_469delTT
1 paper
NM_002137.4
p.L102L
c.306G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."