Varaico: Literature-Extracted Genetic Variants

Gene:PCBP3
Variant:p.E56D

PCBP3

29 papers

RefSeq Summary

This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play i...

Pfam Domains

KH_1aa 47–109UCSCKH domain
KH_1aa 131–195UCSCKH domain
KH_1aa 295–359UCSCKH domain

Gene Aliases

HGNC Name

poly(rC) binding protein 3

HGNC Previous Symbols

PCBP3-OT1; PCBP3OT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384156.1
p.E56D
c.168A>C
Surrounding Variants
1 paper
NM_001384156.1
p.E56D
c.168A>T
1 paper
NM_001384156.1
p.K63_K64Splc
c.190-83G>A
1 paper
NM_001384156.1
p.E74_S75Splc
c.223-21G>A
1 paper
NM_001384156.1
p.S75T
c.224G>C
1 paper
NM_001384156.1
p.C86R
c.256T>C
2 papers
NM_001384156.1
p.A99T
c.295G>A
1 paper
NM_001384156.1
p.E112G
c.335A>G
1 paper
NM_001384156.1
p.E154G
c.461A>G
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