Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.A10V

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.A10V
c.29C>T
Surrounding Variants
1 paper
NM_002098.6
p.A12V
c.35C>T
1 paper
NM_002098.6
p.E9_E11del3
c.25_32del9
1 paper
NM_002098.6
p.S6S
c.18C>T
1 paper
NM_002098.6
p.E15*
c.43G>T
1 paper
NM_002098.6
p.E15K
c.43G>A
1 paper
NM_002098.6
p.Q3_E4del1
c.9_11delTCC
1 paper
NM_002098.6
p.E15D
c.45G>T
1 paper
NM_002098.6
p.E15D
c.45G>C
1 paper
NM_002098.6
p.M1_G2insFs
c.3_4insT
1 paper
NM_002098.6
p.M1T
c.2T>C
1 paper
NM_002098.6
p.W24delFs
c.72delC
1 paper
NM_002098.6
p.Y25*
c.75C>G
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