Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.C201fs

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.C201fs
c.601_602fs
Surrounding Variants
1 paper
NM_006196.4
p.C201fs
c.601_602fs
2 papers
NM_006196.4
p.C201insFs
c.601dupT
1 paper
NM_006196.4
p.A204fs
c.610_611fs
1 paper
NM_006196.4
p.G206D
c.617G>A
1 paper
NM_006196.4
p.P208fs
c.622_623fs
1 paper
NM_006196.4
p.H209Y
c.625C>T
1 paper
NM_006196.4
p.H209fs
c.625_626fs
1 paper
NM_006196.4
p.A210fs
c.628_629fs
1 paper
NM_006196.4
p.S189S
c.567C>T
1 paper
NM_006196.4
p.S189fs
c.565_566fs
1 paper
NM_006196.4
p.P185H
c.554C>A
1 paper
NM_006196.4
p.P217T
c.649C>A
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