Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.N1467S

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.N1467S
c.4400A>G
Surrounding Variants
1 paper
NM_020340.5
p.A1464V
c.4391C>T
1 paper
NM_020340.5
p.G1492Splc
c.4474+1G>C
2 papers
NM_020340.5
p.R1514Q
c.4541G>A
1 paper
NM_020340.5
p.H1519Y
c.4555C>T
1 paper
NM_020340.5
p.R1424Q
c.4271G>A
2 papers
NM_020340.5
p.G1421S
c.4261G>A
1 paper
NM_020340.5
p.P1409R
c.4226C>G
1 paper
NM_020340.5
p.A1403S
c.4207G>T
1 paper
NM_020340.5
p.A1403delFs
c.4207delG
4 papers
NM_020340.5
p.T1560I
c.4679C>T
1 paper
NM_020340.5
p.P1383P
c.4149G>A
1 paper
NM_020340.5
p.A1382V
c.4145C>T
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