Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG1
Variant:p.C1145R

PLEKHG1

89 papers

Pfam Domains

RhoGEFaa 117–291UCSCRhoGEF domain
SOS1_NGEF_PHaa 318–414UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G1

HGNC Alias Symbols

KIAA1209; ARHGEF41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001029884.3
p.C1145R
c.3433T>C
Surrounding Variants
2 papers
NM_001029884.3
p.V1147M
c.3439G>A
1 paper
NM_001029884.3
p.P1152P
c.3456C>G
1 paper
NM_001029884.3
p.N1156I
c.3467A>T
1 paper
NM_001029884.3
p.E1113K
c.3337G>A
1 paper
NM_001029884.3
p.C1098Y
c.3293G>A
1 paper
NM_001029884.3
p.G1081E
c.3242G>A
1 paper
NM_001029884.3
p.C1216fs
c.3646_3647fs
1 paper
NM_001029884.3
p.H1219N
c.3655C>A
1 paper
NM_001029884.3
p.P1224Q
c.3671C>A
2 papers
NM_001029884.3
p.G1233C
c.3697G>T
1 paper
NM_001029884.3
p.T1241I
c.3722C>T
1 paper
NM_001029884.3
p.E1037*
c.3109G>T
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