Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A

GUCA1A

218 papers

RefSeq Summary

This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concen...

Pfam Domains

EF-hand_1aa 55–83UCSCEF hand domain
EF-hand_7aa 89–161UCSCEF-hand domain pair

Gene Aliases

HGNC Name

guanylate cyclase activator 1A

HGNC Previous Symbols

GUCA1; C6orf131

Papers
RefSeq ID
Protein change
DNA change
1–12 of 164 variants
99 papers
NM_001384910.1
p.Y99C
c.296A>G
46 papers
NM_001384910.1
p.E155G
c.464A>G
43 papers
NM_001384910.1
p.P50L
c.149C>T
37 papers
NM_001384910.1
p.L151F
c.451C>T
20 papers
NM_001384910.1
p.D100E
c.300T>A
20 papers
NM_001384910.1
p.D100E
c.300T>G
18 papers
NM_001384910.1
p.N104K
c.312C>A
18 papers
NM_001384910.1
p.N104K
c.312C>G
17 papers
NM_001384910.1
p.G159V
c.476G>T
15 papers
NM_001384910.1
p.E89K
c.265G>A
14 papers
NM_001384910.1
p.E111V
c.332A>T
13 papers
NM_001384910.1
p.L84F
c.250C>T
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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."