Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG1

Variant:p.D176N

PLEKHG1

6q25.1 (UCSC)OMIM PanelApp GTEx

89 papers

Pfam Domains

RhoGEFaa 117–291UCSCRhoGEF domain

SOS1_NGEF_PHaa 318–414UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G1

HGNC Alias Symbols

KIAA1209; ARHGEF41

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:150786403 G>A

NM_001029884.3

p.D176N

c.526G>A

exact variant not in gnomAD49 overlapping SVs

Surrounding Variants

chr6:150795884 A>C

NM_001029884.3

p.Y204S

c.611A>C

exact variant not in gnomAD49 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."