Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4B
Variant:p.A1538T

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.A1538T
c.4612G>A
Surrounding Variants
1 paper
NM_052909.5
p.G1567V
c.4700G>T
1 paper
NM_052909.5
p.A1575V
c.4724C>T
1 paper
NM_052909.5
p.V1595I
c.4783G>A
1 paper
NM_052909.5
p.A1610V
c.4829C>T
1 paper
NM_052909.5
p.V1518I
c.4552G>A
1 paper
NM_052909.5
p.A1507T
c.4519G>A
1 paper
NM_052909.5
p.A1503D
c.4508C>A
1 paper
NM_052909.5
p.R1502G
c.4504C>G
1 paper
NM_052909.5
p.R1461W
c.4381C>T
2 papers
NM_052909.5
p.R1432Q
c.4295G>A
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