Varaico: Literature-Extracted Genetic Variants

Gene:PRRG2
Variant:p.L175F

PRRG2

22 papers

RefSeq Summary

The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal en...

Pfam Domains

Glaaa 55–95UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

Gene Aliases

HGNC Name

proline rich and Gla domain 2

HGNC Alias Symbol

PRGP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000951.3
p.L175F
c.523C>T
Surrounding Variants
1 paper
NM_000951.3
p.L175P
c.524T>C
1 paper
NM_000951.3
p.P176H
c.527C>A
1 paper
NM_000951.3
p.P173_G174delFs
c.519_520delAG
1 paper
NM_000951.3
p.T177S
c.529A>T
1 paper
NM_000951.3
p.T177S
c.530C>G
1 paper
NM_000951.3
p.P172S
c.514C>T
1 paper
NM_000951.3
p.E179E
c.537G>A
1 paper
NM_000951.3
p.P169P
c.507A>C
1 paper
NM_000951.3
p.P168delFs
c.502delC
1 paper
NM_000951.3
p.A190V
c.569C>T
1 paper
NM_000951.3
p.P194R
c.581C>G
1 paper
NM_000951.3
p.A124V
c.371C>T
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