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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDCL2

Variant:p.S231I

PDCL2

16 papers

RefSeq Summary

This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Memb...

Pfam Domains

Phosducinaa 13–234UCSCPhosducin

Gene Aliases

HGNC Name

phosducin like 2

HGNC Alias Symbol

GCPHLP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:55556591 C>A

NM_152401.3

p.S231I

c.692G>T

Phosducin

Exome: 0.0% (AC=0, hom=0)Genome: n/a71 overlapping SVs

Surrounding Variants

1 paper

chr4:55556588 T>A

NM_152401.3

p.D232V

c.695A>T

Phosducin

exact variant not in gnomAD71 overlapping SVs

1 paper

chr4:55562574 AG>A

NM_152401.3

p.L134delFs

c.400delG

Phosducin

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr4:55562575 AAG>N

NM_152401.3

p.L134fs

c.400_401fs

Phosducin

exact variant not in gnomAD70 overlapping SVs

1 paper

chr4:55562576 ACTAAGATGCTG>A

NM_152401.3

p.Q130_S133delFs

c.388_398del11

Phosducin

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr4:55562587 CTG>N

NM_152401.3

p.Q130fs

c.388_389fs

Phosducin

exact variant not in gnomAD70 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."