Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.I16T

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.I16T
c.47T>C
Surrounding Variants
1 paper
NM_006196.4
p.I16N
c.47T>A
1 paper
NM_006196.4
p.I16L
c.46A>C
1 paper
NM_006196.4
p.T15T
c.45C>A
2 papers
NM_006196.4
p.R17Q
c.50G>A
1 paper
NM_006196.4
p.L14fs
c.40_41fs
1 paper
NM_006196.4
p.T13fs
c.37_38fs
2 papers
NM_006196.4
p.T13delFs
c.38_39delCT
1 paper
NM_006196.4
p.M20V
c.58A>G
1 paper
NM_006196.4
p.L10fs
c.28_29fs
1 paper
NM_006196.4
p.G9E
c.26G>A
1 paper
NM_006196.4
p.S8R
c.24T>A
1 paper
NM_006196.4
p.S8Fs
c.24delinsTGFs
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