Varaico: Literature-Extracted Genetic Variants

Gene:RPH3AL
Variant:p.G315D

RPH3AL

30 papers

RefSeq Summary

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. ...

Pfam Domains

FYVE_2aa 45–159UCSCFYVE-type zinc finger

Gene Aliases

HGNC Name

rabphilin 3A like (without C2 domains)

HGNC Alias Symbol

Noc2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006987.4
p.G315D
c.944G>A
Surrounding Variants
2 papers
NM_006987.4
p.A303V
c.908C>T
1 paper
NM_006987.4
p.A302T
c.904G>A
1 paper
NM_006987.4
p.R299*
c.895C>T
1 paper
NM_006987.4
p.R289*
c.865C>T
1 paper
NM_006987.4
p.G273R
c.817G>A
1 paper
NM_006987.4
p.P238delFs
c.714delG
1 paper
NM_006987.4
p.P238L
c.713C>T
1 paper
NM_006987.4
p.D236N
c.706G>A
1 paper
NM_006987.4
p.R233Q
c.698G>A
1 paper
NM_006987.4
p.D232N
c.694G>A
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