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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCTR

Variant:p.S50Y

SCTR

88 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonat...

Pfam Domains

HRMaa 63–126UCSCHormone receptor domain

7tm_2aa 139–384UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

secretin receptor

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:119494472 G>T

NM_002980.3

p.S50Y

c.149C>A

exact variant not in gnomAD149 overlapping SVs

Surrounding Variants

1 paper

chr2:119494461 T>A

NM_002980.3

p.T54S

c.160A>T

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:119494498 C>G

NM_002980.3

p.E41D

c.123G>C

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:119494445 G>A

NM_002980.3

p.T59M

c.176C>T

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=2, hom=0)149 overlapping SVs

1 paper

chr2:119494511 A>G

NM_002980.3

p.V37A

c.110T>C

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:119494536 G>A

NM_002980.3

p.P29S

c.85C>T

exact variant not in gnomAD149 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."