Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.Q112H

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.Q112H
c.336G>C
Surrounding Variants
1 paper
NM_020340.5
p.Q112H
c.336G>T
1 paper
NM_020340.5
p.K117E
c.349A>G
2 papers
NM_020340.5
p.T104M
c.311C>T
1 paper
NM_020340.5
p.A100A
c.300C>T
1 paper
NM_020340.5
p.Q54R
c.161A>G
1 paper
NM_020340.5
p.Q54L
c.161A>T
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