Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.G44A

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.G44A
c.131G>C
Surrounding Variants
1 paper
NM_006196.4
p.S43G
c.127A>G
1 paper
NM_006196.4
p.N48H
c.142A>C
1 paper
NM_006196.4
p.R40S
c.118C>A
1 paper
NM_006196.4
p.I39T
c.116T>C
1 paper
NM_006196.4
p.R38M
c.113G>T
2 papers
NM_006196.4
p.R38_I39del2
c.112_116del6
2 papers
NM_006196.4
p.C54S
c.160T>A
2 papers
NM_006196.4
p.C54S
c.161G>C
1 paper
NM_006196.4
p.E34K
c.100G>A
1 paper
NM_006196.4
p.E56_G63delFs
c.167_188del22
1 paper
NM_006196.4
p.K32K
c.96A>G
1 paper
NM_006196.4
p.E56fs
c.166_167fs
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