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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA1B

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 74 variants

16 papers

chr6:42185686 C>T

NM_002098.6

p.G157R

c.469G>A

EF-hand_7

Exome: 0.0% (AC=305, hom=4)Genome: 0.0% (AC=12, hom=0)60 overlapping SVs

15 papers

chr6:42185686 C>G

NM_002098.6

p.G157R

c.469G>C

EF-hand_7

exact variant not in gnomAD60 overlapping SVs

6 papers

chr6:42185704 G>A

NM_002098.6

p.L151F

c.451C>T

EF-hand_7

Exome: 0.0% (AC=1, hom=0)Genome: n/a60 overlapping SVs

6 papers

chr6:42185691 T>C

NM_002098.6

p.E155G

c.464A>G

EF-hand_7

Exome: 0.0% (AC=0, hom=0)Genome: n/a60 overlapping SVs

5 papers

chr6:42194650 A>G

NM_002098.6

p.Y57Y

c.171T>C

Exome: 63.5% (AC=927422, hom=298756)Genome: 54.5% (AC=82816, hom=24536)59 overlapping SVs

4 papers

chr6:42194634 G>A

NM_002098.6

p.R63*

c.187C>T

EF-hand_5

Exome: 0.0% (AC=382, hom=1)Genome: 0.0% (AC=28, hom=0)59 overlapping SVs

4 papers

chr6:42188686 C>T

NM_002098.6

p.V85M

c.253G>A

Exome: 0.1% (AC=761, hom=5)Genome: 0.5% (AC=741, hom=13)58 overlapping SVs

4 papers

chr6:42185690 C>A

NM_002098.6

p.E155D

c.465G>T

EF-hand_7

Exome: 1.0% (AC=14926, hom=120)Genome: 0.8% (AC=1183, hom=14)60 overlapping SVs

4 papers

chr6:42185690 C>G

NM_002098.6

p.E155D

c.465G>C

EF-hand_7

exact variant not in gnomAD60 overlapping SVs

4 papers

chr6:42184942 C>A

NM_002098.6

p.G159V

c.476G>T

EF-hand_7

exact variant not in gnomAD60 overlapping SVs

3 papers

chr6:42194792 G>A

NM_002098.6

p.A10V

c.29C>T

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=5, hom=0)59 overlapping SVs

3 papers

chr6:42185769 C>T

NM_002098.6

p.R129Q

c.386G>A

EF-hand_7

Exome: 0.0% (AC=251, hom=0)Genome: 0.0% (AC=19, hom=0)60 overlapping SVs

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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."