Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.C293S

PCBP1

117 papers

RefSeq Summary

This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen a...

Pfam Domains

KH_1aa 15–77UCSCKH domain
KH_1aa 99–164UCSCKH domain
KH_1aa 281–345UCSCKH domain

Gene Aliases

HGNC Name

poly(rC) binding protein 1

HGNC Alias Symbols

HNRPE1; hnRNP-E1; HNRPX; hnRNP-X

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006196.4
p.C293S
c.877T>A
Surrounding Variants
1 paper
NM_006196.4
p.C293R
c.877T>C
3 papers
NM_006196.4
p.C293Y
c.878G>A
1 paper
NM_006196.4
p.C293S
c.878G>C
1 paper
NM_006196.4
p.G292D
c.875G>A
1 paper
NM_006196.4
p.G292A
c.875G>C
1 paper
NM_006196.4
p.I294M
c.882A>G
1 paper
NM_006196.4
p.I291V
c.871A>G
1 paper
NM_006196.4
p.I291F
c.871A>T
1 paper
NM_006196.4
p.I295T
c.884T>C
1 paper
NM_006196.4
p.R297fs
c.889_890fs
1 paper
NM_006196.4
p.R297insFs
c.891dupC
1 paper
NM_006196.4
p.P287L
c.860C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."