Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.Y99C

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
99 papers
NM_001384910.1
p.Y99C
c.296A>G
Surrounding Variants
3 papers
NM_001384910.1
p.Y99S
c.296A>C
2 papers
NM_001384910.1
p.Y99N
c.295T>A
1 paper
NM_001384910.1
p.Y99H
c.295T>C
12 papers
NM_001384910.1
p.D100G
c.299A>G
1 paper
NM_001384910.1
p.L98R
c.293T>G
20 papers
NM_001384910.1
p.D100E
c.300T>A
20 papers
NM_001384910.1
p.D100E
c.300T>G
1 paper
NM_001384910.1
p.V101_D102del1
c.302_304delTAG
1 paper
NM_001384910.1
p.D102H
c.304G>C
1 paper
NM_001384910.1
p.G103R
c.307G>C
1 paper
NM_001384910.1
p.N104H
c.310A>C
1 paper
NM_001384910.1
p.W94L
c.281G>T
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