Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4B
Variant:p.A1048V

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.A1048V
c.3143C>T
Surrounding Variants
1 paper
NM_052909.5
p.D1055D
c.3165C>T
1 paper
NM_052909.5
p.W1034*
c.3102G>A
1 paper
NM_052909.5
p.W1034*
c.3101G>A
1 paper
NM_052909.5
p.R1027G
c.3079C>G
1 paper
NM_052909.5
p.P1075S
c.3223C>T
1 paper
NM_052909.5
p.A1016V
c.3047C>T
1 paper
NM_052909.5
p.T1083M
c.3248C>T
1 paper
NM_052909.5
p.P991P
c.2973C>T
1 paper
NM_052909.5
p.E982G
c.2945A>G
1 paper
NM_052909.5
p.A980V
c.2939C>T
1 paper
NM_052909.5
p.R979H
c.2936G>A
1 paper
NM_052909.5
p.R979C
c.2935C>T
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