Varaico: Literature-Extracted Genetic Variants

Gene:PRAG1
Variant:p.S243L

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
2 papers
NM_001080826.3
p.S243L
c.728C>T
Surrounding Variants
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
1 paper
NM_001080826.3
p.D239G
c.716A>G
1 paper
NM_001080826.3
p.S248R
c.742A>C
1 paper
NM_001080826.3
p.S248R
c.744C>G
1 paper
NM_001080826.3
p.S248R
c.744C>A
1 paper
NM_001080826.3
p.E249K
c.745G>A
1 paper
NM_001080826.3
p.S234P
c.700T>C
1 paper
NM_001080826.3
p.P233S
c.697C>T
1 paper
NM_001080826.3
p.R208C
c.622C>T
1 paper
NM_001080826.3
p.R303W
c.907C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."