Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.R1514Q

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.R1514Q
c.4541G>A
Surrounding Variants
1 paper
NM_020340.5
p.H1519Y
c.4555C>T
4 papers
NM_020340.5
p.T1560I
c.4679C>T
1 paper
NM_020340.5
p.G1492Splc
c.4474+1G>C
1 paper
NM_020340.5
p.N1467S
c.4400A>G
1 paper
NM_020340.5
p.A1464V
c.4391C>T
1 paper
NM_020340.5
p.S1616F
c.4847C>T
1 paper
NM_020340.5
p.A1617D
c.4850C>A
1 paper
NM_020340.5
p.S1631G
c.4891A>G
1 paper
NM_020340.5
p.G1632D
c.4895G>A
1 paper
NM_020340.5
p.R1644*
c.4930C>T
1 paper
NM_020340.5
p.R1424Q
c.4271G>A
2 papers
NM_020340.5
p.G1421S
c.4261G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."