Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.A78E

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.A78E
c.233C>A
Surrounding Variants
1 paper
NM_001384910.1
p.A79fs
c.235_236fs
11 papers
NM_001384910.1
p.V77E
c.230T>A
1 paper
NM_001384910.1
p.L80I
c.238C>A
1 paper
NM_001384910.1
p.L80F
c.238C>T
3 papers
NM_001384910.1
p.E75D
c.225G>C
3 papers
NM_001384910.1
p.E75D
c.225G>T
1 paper
NM_001384910.1
p.E75Q
c.223G>C
1 paper
NM_001384910.1
p.M74K
c.221T>A
2 papers
NM_001384910.1
p.L82S
c.245T>C
13 papers
NM_001384910.1
p.L84F
c.250C>T
1 paper
NM_001384910.1
p.D72G
c.215A>G
1 paper
NM_001384910.1
p.K85E
c.253A>G
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