Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.P50L

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
43 papers
NM_001384910.1
p.P50L
c.149C>T
Surrounding Variants
1 paper
NM_001384910.1
p.S49R
c.147C>A
1 paper
NM_001384910.1
p.S49R
c.147C>G
1 paper
NM_001384910.1
p.S49R
c.145A>C
1 paper
NM_001384910.1
p.A52T
c.154G>A
5 papers
NM_001384910.1
p.A52S
c.154G>T
1 paper
NM_001384910.1
p.S53R
c.157A>C
1 paper
NM_001384910.1
p.S53R
c.159C>A
1 paper
NM_001384910.1
p.S53R
c.159C>G
1 paper
NM_001384910.1
p.V56L
c.166G>C
1 paper
NM_001384910.1
p.Q58R
c.173A>G
1 paper
NM_001384910.1
p.F42I
c.124T>A
1 paper
NM_001384910.1
p.Q41R
c.122A>G
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