Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.I107I

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.I107I
c.321T>A
Surrounding Variants
9 papers
NM_001384910.1
p.I107T
c.320T>C
1 paper
NM_001384910.1
p.I107V
c.319A>G
1 paper
NM_001384910.1
p.R109S
c.325C>A
1 paper
NM_001384910.1
p.D110_L113delFs
c.328_337del10
1 paper
NM_001384910.1
p.C106S
c.317G>C
1 paper
NM_001384910.1
p.C106S
c.316T>A
1 paper
NM_001384910.1
p.C106_E111del6
c.316_332del18
1 paper
NM_001384910.1
p.D110N
c.328G>A
2 papers
NM_001384910.1
p.G105R
c.313G>C
18 papers
NM_001384910.1
p.N104K
c.312C>A
18 papers
NM_001384910.1
p.N104K
c.312C>G
2 papers
NM_001384910.1
p.N104_G105delins
c.312_313delinsGC
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