Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4B
Variant:p.Q410H

PLEKHG4B

52 papers

RefSeq Summary

This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017].

Pfam Domains

KIAA1755_Naa 18–197UCSCKIAA1755 N-terminal domain
RhoGEFaa 1165–1322UCSCRhoGEF domain
SOS1_NGEF_PHaa 1353–1458UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G4B

HGNC Alias Symbols

KIAA1909; ARHGEF48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052909.5
p.Q410H
c.1230G>T
Surrounding Variants
1 paper
NM_052909.5
p.Q409Q
c.1227A>G
1 paper
NM_052909.5
p.V393A
c.1178T>C
1 paper
NM_052909.5
p.S369Y
c.1106C>A
1 paper
NM_052909.5
p.P365A
c.1093C>G
1 paper
NM_052909.5
p.E358Q
c.1072G>C
1 paper
NM_052909.5
p.F352S
c.1055T>C
1 paper
NM_052909.5
p.T344I
c.1031C>T
1 paper
NM_052909.5
p.P478P
c.1434A>G
1 paper
NM_052909.5
p.P339S
c.1015C>T
1 paper
NM_052909.5
p.G487C
c.1459G>T
1 paper
NM_052909.5
p.T325T
c.975C>G
1 paper
NM_052909.5
p.C305W
c.915T>G
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