Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.R883*

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
2 papers
NM_020340.5
p.R883*
c.2647C>T
Surrounding Variants
1 paper
NM_020340.5
p.K889R
c.2666A>G
1 paper
NM_020340.5
p.R862C
c.2584C>T
1 paper
NM_020340.5
p.D916E
c.2748C>A
1 paper
NM_020340.5
p.D916E
c.2748C>G
1 paper
NM_020340.5
p.G917E
c.2750G>A
1 paper
NM_020340.5
p.G929C
c.2785G>T
1 paper
NM_020340.5
p.G857Splc
c.2569+179C>T
1 paper
NM_020340.5
p.E841K
c.2521G>A
1 paper
NM_020340.5
p.S837L
c.2510C>T
1 paper
NM_020340.5
p.M835V
c.2503A>G
1 paper
NM_020340.5
p.G824S
c.2470G>A
1 paper
NM_020340.5
p.S1005R
c.3013A>C
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