Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R63*

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
4 papers
NM_002098.6
p.R63*
c.187C>T
Surrounding Variants
1 paper
NM_002098.6
p.G60D
c.179G>A
1 paper
NM_002098.6
p.K67N
c.201G>T
1 paper
NM_002098.6
p.K67N
c.201G>C
1 paper
NM_002098.6
p.V58I
c.172G>A
5 papers
NM_002098.6
p.Y57Y
c.171T>C
1 paper
NM_002098.6
p.G69_D70Splc
c.207+1G>A
2 papers
NM_002098.6
p.D51del1
c.151_152delATC
2 papers
NM_002098.6
p.R44H
c.131G>A
2 papers
NM_002098.6
p.R44C
c.130C>T
1 paper
NM_002098.6
p.H40R
c.119A>G
1 paper
NM_002098.6
p.G35S
c.103G>A
1 paper
NM_002098.6
p.Y25*
c.75C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."