Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R129Q

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
3 papers
NM_002098.6
p.R129Q
c.386G>A
Surrounding Variants
1 paper
NM_002098.6
p.C128_E131delFs
c.383_392del10
1 paper
NM_002098.6
p.I121V
c.361A>G
1 paper
NM_002098.6
p.E119_G120Splc
c.358-4G>C
1 paper
NM_002098.6
p.E119_G120Splc
c.358-9C>T
1 paper
NM_002098.6
p.V146M
c.436G>A
1 paper
NM_002098.6
p.F150C
c.449T>G
6 papers
NM_002098.6
p.L151F
c.451C>T
1 paper
NM_002098.6
p.E119_G120Splc
c.358-46G>T
6 papers
NM_002098.6
p.E155G
c.464A>G
1 paper
NM_002098.6
p.E155A
c.464A>C
4 papers
NM_002098.6
p.E155D
c.465G>T
4 papers
NM_002098.6
p.E155D
c.465G>C
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