Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.E155G

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
Selected Variant
46 papers
NM_001384910.1
p.E155G
c.464A>G
Surrounding Variants
4 papers
NM_001384910.1
p.E155A
c.464A>C
1 paper
NM_001384910.1
p.E155K
c.463G>A
5 papers
NM_001384910.1
p.E155D
c.465G>C
1 paper
NM_001384910.1
p.E155Q
c.463G>C
5 papers
NM_001384910.1
p.E155D
c.465G>T
1 paper
NM_001384910.1
p.I157T
c.470T>C
2 papers
NM_001384910.1
p.L153R
c.458T>G
1 paper
NM_001384910.1
p.G159S
c.475G>A
17 papers
NM_001384910.1
p.G159V
c.476G>T
37 papers
NM_001384910.1
p.L151F
c.451C>T
1 paper
NM_001384910.1
p.V160G
c.479T>G
1 paper
NM_001384910.1
p.K162E
c.484A>G
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