Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.G105R

GUCA1B

114 papers

RefSeq Summary

The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar...

Pfam Domains

EF-hand_5aa 58–82UCSCEF hand
EF-hand_7aa 91–171UCSCEF-hand domain pair

Gene Aliases

HGNC Name

guanylate cyclase activator 1B

HGNC Alias Symbols

GCAP2; RP48; GCAP-2; GCAP-II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002098.6
p.G105R
c.313G>C
Surrounding Variants
1 paper
NM_002098.6
p.N106N
c.318T>C
1 paper
NM_002098.6
p.D110Y
c.328G>T
1 paper
NM_002098.6
p.K99T
c.296A>C
1 paper
NM_002098.6
p.R111H
c.332G>A
1 paper
NM_002098.6
p.N106_R111del6
c.316_332del18
1 paper
NM_002098.6
p.K93E
c.277A>G
4 papers
NM_002098.6
p.V85M
c.253G>A
1 paper
NM_002098.6
p.L84F
c.250C>T
1 paper
NM_002098.6
p.L84V
c.250C>G
1 paper
NM_002098.6
p.E77A
c.230A>C
1 paper
NM_002098.6
p.D74N
c.220G>A
1 paper
NM_002098.6
p.D70delFs
c.208delC
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