Varaico: Literature-Extracted Genetic Variants

Gene:PRAG1
Variant:p.V139I

PRAG1

57 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homol...

Pfam Domains

PK_Tyr_Ser-Thraa 1080–1159UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

PEAK1 related, kinase-activating pseudokinase 1

HGNC Alias Symbols

DKFZp761P0423; SgK223; PRAGMIN; PEAK2; NACK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080826.3
p.V139I
c.415G>A
Surrounding Variants
1 paper
NM_001080826.3
p.V139L
c.415G>C
1 paper
NM_001080826.3
p.R137G
c.409C>G
1 paper
NM_001080826.3
p.L122I
c.364C>A
1 paper
NM_001080826.3
p.R173W
c.517A>T
1 paper
NM_001080826.3
p.R208C
c.622C>T
1 paper
NM_001080826.3
p.P233S
c.697C>T
1 paper
NM_001080826.3
p.S234P
c.700T>C
1 paper
NM_001080826.3
p.D239G
c.716A>G
2 papers
NM_001080826.3
p.S243L
c.728C>T
1 paper
NM_001080826.3
p.G246R
c.736G>C
1 paper
NM_001080826.3
p.G246R
c.736G>A
1 paper
NM_001080826.3
p.D247Y
c.739G>T
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