Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.Q1809*

ARFGEF3

132 papers

Pfam Domains

DCBaa 1–172UCSCMon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain
Sec7-like_HDSaa 1242–1316UCSCMon2/Sec7/BIG1-like, HDS
BIG2_Caa 1720–1935UCSCBIG2 C-terminal domain

Gene Aliases

HGNC Name

ARFGEF family member 3

HGNC Previous Symbols

C6orf92; KIAA1244

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020340.5
p.Q1809*
c.5425C>T
Surrounding Variants
1 paper
NM_020340.5
p.R1808R
c.5424C>G
1 paper
NM_020340.5
p.A1824V
c.5471C>T
1 paper
NM_020340.5
p.G1789R
c.5365G>A
1 paper
NM_020340.5
p.G1789R
c.5365G>C
1 paper
NM_020340.5
p.T1747M
c.5240C>T
1 paper
NM_020340.5
p.P1871L
c.5612C>T
1 paper
NM_020340.5
p.K1875_E1876del2
c.5623_5627del6
1 paper
NM_020340.5
p.K1875_E1876del1
c.5624_5626delAGG
1 paper
NM_020340.5
p.K1875R
c.5624A>G
1 paper
NM_020340.5
p.R1883Q
c.5648G>A
1 paper
NM_020340.5
p.V1901_R1903del3
c.5701_5708del9
1 paper
NM_020340.5
p.V1901_R1903del0
c.5702_5707del6
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