Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4B
Variant:p.R1432Q

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
2 papers
NM_052909.5
p.R1432Q
c.4295G>A
Surrounding Variants
1 paper
NM_052909.5
p.R1461W
c.4381C>T
1 paper
NM_052909.5
p.R1347R
c.4041C>T
1 paper
NM_052909.5
p.E1322K
c.3964G>A
1 paper
NM_052909.5
p.A1310fs
c.3928_3929fs
1 paper
NM_052909.5
p.A1310delFs
c.3929delC
1 paper
NM_052909.5
p.V1206I
c.3616G>A
1 paper
NM_052909.5
p.R1174S
c.3522G>C
1 paper
NM_052909.5
p.E1168K
c.3502G>A
1 paper
NM_052909.5
p.R1502G
c.4504C>G
1 paper
NM_052909.5
p.A1503D
c.4508C>A
1 paper
NM_052909.5
p.A1507T
c.4519G>A
1 paper
NM_052909.5
p.V1518I
c.4552G>A
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