Varaico: Literature-Extracted Genetic Variants

Gene:PRRG1
Variant:p.I199V

PRRG1

21 papers

RefSeq Summary

This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide ...

Pfam Domains

Glaaa 25–65UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

Gene Aliases

HGNC Name

proline rich and Gla domain 1

HGNC Alias Symbol

PRGP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001142395.2
p.I199V
c.595A>G
Surrounding Variants
1 paper
NM_001142395.2
p.D157H
c.469G>C
1 paper
NM_001142395.2
p.P135T
c.403C>A
1 paper
NM_001142395.2
p.P134fs
c.400_401fs
2 papers
NM_001142395.2
p.P134A
c.400C>G
1 paper
NM_001142395.2
p.P134fs
c.400_401fs
1 paper
NM_001142395.2
p.P133S
c.397C>T
1 paper
NM_001142395.2
p.P131fs
c.391_392fs
1 paper
NM_001142395.2
p.P121P
c.363T>C
1 paper
NM_001142395.2
p.G118fs
c.352_353fs
1 paper
NM_001142395.2
p.G118delFs
c.352delG
1 paper
NM_001142395.2
p.N108K
c.324C>A
1 paper
NM_001142395.2
p.N108K
c.324C>G
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