Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.M250fs

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.M250fs
c.748_749fs
Surrounding Variants
1 paper
NM_006196.4
p.M250insFs
c.749dupT
1 paper
NM_006196.4
p.A249V
c.746C>T
1 paper
NM_006196.4
p.M251L
c.751A>C
1 paper
NM_006196.4
p.M251L
c.751A>T
1 paper
NM_006196.4
p.H247fs
c.739_740fs
1 paper
NM_006196.4
p.Q245*
c.733C>T
1 paper
NM_006196.4
p.R243fs
c.727_728fs
1 paper
NM_006196.4
p.R243_A258delFs
c.729_772del44
1 paper
NM_006196.4
p.A242T
c.724G>A
1 paper
NM_006196.4
p.G259*
c.775G>T
1 paper
NM_006196.4
p.A272V
c.815C>T
1 paper
NM_006196.4
p.S273T
c.818G>C
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."