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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGGT1B

Variant:p.S42T

PGGT1B

27 papers

RefSeq Summary

Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino...

Pfam Domains

Prenyltransaa 20–346UCSCPrenyltransferase alpha-alpha toroid domain

Gene Aliases

HGNC Name

protein geranylgeranyltransferase type I subunit beta

HGNC Alias Symbols

GGTI; BGGI

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:115262728 A>T

NM_005023.4

p.S42T

c.124T>A

Prenyltrans

Exome: 0.0% (AC=11, hom=0)Genome: n/a79 overlapping SVs

Surrounding Variants

1 paper

chr5:115262715 CT>C

NM_005023.4

p.S46delFs

c.136delT

Prenyltrans

exact variant not in gnomAD79 overlapping SVs

1 paper

chr5:115262814 C>T

NM_005023.4

p.G13D

c.38G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)79 overlapping SVs

1 paper

chr5:115262842 T>G

NM_005023.4

p.T4P

c.10A>C

Exome: 0.0% (AC=3, hom=0)Genome: n/a79 overlapping SVs

1 paper

chr5:115253253 A>C

NM_005023.4

p.L48W

c.143T>G

Prenyltrans

exact variant not in gnomAD79 overlapping SVs

1 paper

chr5:115253228 G>A

NM_005023.4

p.S56S

c.168C>T

Prenyltrans

Exome: 0.1% (AC=1036, hom=2)Genome: 0.0% (AC=55, hom=0)79 overlapping SVs

1 paper

chr5:115253139 T>A

NM_005023.4

p.D86V

c.257A>T

Prenyltrans

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)79 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."