Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.R1123S

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.R1123S
c.3369G>T
Surrounding Variants
1 paper
NM_020340.5
p.R1123S
c.3369G>C
1 paper
NM_020340.5
p.S1118C
c.3353C>G
1 paper
NM_020340.5
p.S1109N
c.3326G>A
1 paper
NM_020340.5
p.G1107R
c.3319G>A
1 paper
NM_020340.5
p.G1107R
c.3319G>C
1 paper
NM_020340.5
p.R1100H
c.3299G>A
1 paper
NM_020340.5
p.Q1080*
c.3238C>T
1 paper
NM_020340.5
p.S1074N
c.3221G>A
1 paper
NM_020340.5
p.R1071H
c.3212G>A
1 paper
NM_020340.5
p.H1065fs
c.3193_3194fs
1 paper
NM_020340.5
p.E1064K
c.3190G>A
1 paper
NM_020340.5
p.P1062fs
c.3184_3185fs
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