Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.K121*

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.K121*
c.361A>T
Surrounding Variants
1 paper
NM_006196.4
p.C118F
c.353G>T
1 paper
NM_006196.4
p.G117E
c.350G>A
1 paper
NM_006196.4
p.G117insFs
c.349dupG
1 paper
NM_006196.4
p.G116fs
c.346_347fs
1 paper
NM_006196.4
p.G116C
c.346G>T
1 paper
NM_006196.4
p.A129insFs
c.385dupG
1 paper
NM_006196.4
p.I113fs
c.337_338fs
1 paper
NM_006196.4
p.I113delFs
c.338delT
1 paper
NM_006196.4
p.A129fs
c.385_386fs
1 paper
NM_006196.4
p.L138L
c.412C>T
7 papers
NM_006196.4
p.L102Q
c.305T>A
3 papers
NM_006196.4
p.L102P
c.305T>C
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