Varaico: Literature-Extracted Genetic Variants

Gene:PRND
Variant:p.T43T

PRND

62 papers

RefSeq Summary

This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gen...

Pfam Domains

Doppelaa 1–30UCSCPrion-like protein Doppel
Prionaa 63–176UCSCPrion/Doppel alpha-helical domain

Gene Aliases

HGNC Name

prion like protein doppel

HGNC Alias Symbols

DPL; dJ1068H6.4; DOPPEL; PrPLP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012409.4
p.T43T
c.129T>C
Surrounding Variants
1 paper
NM_012409.4
p.T43I
c.128C>T
1 paper
NM_012409.4
p.S42I
c.125G>T
1 paper
NM_012409.4
p.I46insFs
c.136_137insG
1 paper
NM_012409.4
p.K38N
c.114G>T
1 paper
NM_012409.4
p.A49V
c.146C>T
1 paper
NM_012409.4
p.Q50*
c.148C>T
1 paper
NM_012409.4
p.R37W
c.109C>T
2 papers
NM_012409.4
p.N36N
c.108C>T
1 paper
NM_012409.4
p.Q50H
c.150G>C
1 paper
NM_012409.4
p.Q50H
c.150G>T
1 paper
NM_012409.4
p.K34K
c.102G>A
1 paper
NM_012409.4
p.I33I
c.99C>T
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