Varaico: Literature-Extracted Genetic Variants

Gene:ARFRP1
Variant:p.N27H

ARFRP1

226 papers

RefSeq Summary

The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene play...

Pfam Domains

Arfaa 4–187UCSCADP-ribosylation factor family

Gene Aliases

HGNC Name

ARF related protein 1

HGNC Alias Symbols

ARP; Arp1; ARL18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001267547.3
p.N27H
c.79A>C
Surrounding Variants
1 paper
NM_001267547.3
p.G29R
c.85G>C
1 paper
NM_001267547.3
p.G29R
c.85G>A
1 paper
NM_001267547.3
p.G24delFs
c.70_71delCC
1 paper
NM_001267547.3
p.G24D
c.71G>A
1 paper
NM_001267547.3
p.L23delFs
c.68_69delCA
1 paper
NM_001267547.3
p.G24fs
c.70_71fs
1 paper
NM_001267547.3
p.L23P
c.68T>C
1 paper
NM_001267547.3
p.T31M
c.92C>T
2 papers
NM_001267547.3
p.T31T
c.93G>A
1 paper
NM_001267547.3
p.T31_T32Splc
c.93+2T>C
1 paper
NM_001267547.3
p.D16N
c.46G>A
1 paper
NM_001267547.3
p.Y11Y
c.33C>T
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