Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.T279N

SPG21

55 papers

RefSeq Summary

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic ...

Pfam Domains

Abhydrolase_1aa 45–171UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

SPG21 abhydrolase domain containing, maspardin

HGNC Alias Symbols

ACP33; GL010; BM-019; ABHD21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016630.7
p.T279N
c.836C>A
Surrounding Variants
1 paper
NM_016630.7
p.H272D
c.814C>G
1 paper
NM_016630.7
p.M288V
c.862A>G
1 paper
NM_016630.7
p.A291delFs
c.871delC
1 paper
NM_016630.7
p.Q270_I271Splc
c.810+1G>A
1 paper
NM_016630.7
p.T252K
c.755C>A
1 paper
NM_016630.7
p.A245G
c.734C>G
1 paper
NM_016630.7
p.D226H
c.676G>C
1 paper
NM_016630.7
p.N203S
c.608A>G
7 papers
NM_016630.7
p.T201insFs
c.601_602insA
3 papers
NM_016630.7
p.T201fs
c.601_602fs
1 paper
NM_016630.7
p.Q193R
c.578A>G
1 paper
NM_016630.7
p.R187_L188Splc
c.562-2A>G
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."