Varaico: Literature-Extracted Genetic Variants

Gene:ARL2BP
Variant:p.H99fs

ARL2BP

60 papers

RefSeq Summary

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinit...

Pfam Domains

ARL2_Bind_BARTaa 20–134UCSCThe ARF-like 2 binding protein BART

Gene Aliases

HGNC Name

ARF like GTPase 2 binding protein

HGNC Previous Symbol

RP66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012106.4
p.H99fs
c.295_296fs
Surrounding Variants
1 paper
NM_012106.4
p.Q98Splc
c.294-1G>C
1 paper
NM_012106.4
p.K101_I108del8
c.301_323del24
1 paper
NM_012106.4
p.K101_T114del14
c.301_341del42
1 paper
NM_012106.4
p.G106_M111del6
c.316_332del18
1 paper
NM_012106.4
p.F118L
c.352T>C
1 paper
NM_012106.4
p.F118L
c.354T>A
1 paper
NM_012106.4
p.F118L
c.354T>G
1 paper
NM_012106.4
p.F125Y
c.374T>A
4 papers
NM_012106.4
p.A130_E131Splc
c.390+5G>A
1 paper
NM_012106.4
p.T95P
c.283A>C
2 papers
NM_012106.4
p.E87K
c.259G>A
1 paper
NM_012106.4
p.R84G
c.250C>G
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