Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.A673P

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.A673P
c.2017G>C
Surrounding Variants
1 paper
NM_020340.5
p.R686W
c.2056C>T
1 paper
NM_020340.5
p.S659Y
c.1976C>A
3 papers
NM_020340.5
p.S689A
c.2065T>G
1 paper
NM_020340.5
p.H650R
c.1949A>G
1 paper
NM_020340.5
p.C647S
c.1940G>C
1 paper
NM_020340.5
p.C647S
c.1939T>A
1 paper
NM_020340.5
p.A699D
c.2096C>A
1 paper
NM_020340.5
p.N634_C635del1
c.1901_1903delACT
1 paper
NM_020340.5
p.S625_D626delFs
c.1875_1876delCG
1 paper
NM_020340.5
p.G623S
c.1867G>A
1 paper
NM_020340.5
p.Q613R
c.1838A>G
1 paper
NM_020340.5
p.K550E
c.1648A>G
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