Varaico: Literature-Extracted Genetic Variants

Gene:ENSA

ENSA

26 papers

RefSeq Summary

The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR...

Pfam Domains

Endosulfineaa 11–114UCSCcAMP-regulated phosphoprotein/endosulfine conserved region

Gene Aliases

HGNC Name

endosulfine alpha

HGNC Alias Symbols

MGC4319; MGC8394; MGC78563; ARPP-19e

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_004436.4
p.E23K
c.67G>A
2 papers
NM_207168.2
p.G64fs
c.190_191fs
2 papers
NM_207168.2
p.G64delFs
c.191delC
1 paper
NM_004436.4
p.E17K
c.49G>A
1 paper
NM_004436.4
p.K18M
c.53A>T
1 paper
NM_004436.4
p.E30K
c.88G>A
1 paper
NM_004436.4
p.R31fs
c.91_92fs
1 paper
NM_004436.4
p.G61_Q62Splc
c.183+1G>C
1 paper
NM_004436.4
p.G61_Q62Splc
c.183+52C>T
1 paper
NM_004436.4
p.S67A
c.199T>G
1 paper
NM_004436.4
p.S109A
c.325T>G
1 paper
NM_004436.4
p.G117Splc
c.351-9C>T
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