Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R172W

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.R172W
c.514C>T
Surrounding Variants
1 paper
NM_002098.6
p.A170A
c.510C>T
1 paper
NM_002098.6
p.E168K
c.502G>A
1 paper
NM_002098.6
p.L180fs
c.538_539fs
1 paper
NM_002098.6
p.L161L
c.483G>A
4 papers
NM_002098.6
p.G159V
c.476G>T
1 paper
NM_002098.6
p.G159S
c.475G>A
1 paper
NM_002098.6
p.G159Splc
c.476-30A>G
1 paper
NM_002098.6
p.M199V
c.595A>G
1 paper
NM_002098.6
p.S197_M199delFs
c.591_597del7
1 paper
NM_002098.6
p.G159Splc
c.475+65G>A
1 paper
NM_002098.6
p.G159Splc
c.475+8G>A
1 paper
NM_002098.6
p.G159Splc
c.475+1G>A
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