Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH2D4A

Variant:p.Q35E

SH2D4A

8p21.3 (UCSC)OMIM GTEx

30 papers

Pfam Domains

SH2aa 347–423UCSCSH2 domain

Gene Aliases

HGNC Name

SH2 domain containing 4A

HGNC Alias Symbols

FLJ20967; SH2A; PPP1R38

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:19319650 C>G

NM_022071.4

p.Q35E

c.103C>G

exact variant not in gnomAD22 overlapping SVs

Surrounding Variants

chr8:19319622 G>A

NM_022071.4

p.Q25Q

c.75G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)22 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."