Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.E190K

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
1 paper
NM_001384910.1
p.E190K
c.568G>A
Surrounding Variants
1 paper
NM_001384910.1
p.D189Y
c.565G>T
2 papers
NM_001384910.1
p.Q184R
c.551A>G
1 paper
NM_001384910.1
p.A199T
c.595G>A
1 paper
NM_001384910.1
p.A200D
c.599C>A
1 paper
NM_001384910.1
p.R178C
c.532C>T
1 paper
NM_001384910.1
p.L176P
c.527T>C
11 papers
NM_001384910.1
p.L176F
c.526C>T
2 papers
NM_001384910.1
p.R172Q
c.515G>A
1 paper
NM_001384910.1
p.L167R
c.500T>G
2 papers
NM_001384910.1
p.L166R
c.497T>G
1 paper
NM_001384910.1
p.Q164H
c.492G>C
1 paper
NM_001384910.1
p.Q164R
c.491A>G
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