Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4B
Variant:p.F65S

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.F65S
c.194T>C
Surrounding Variants
1 paper
NM_052909.5
p.A72T
c.214G>A
2 papers
NM_052909.5
p.E18K
c.52G>A
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