Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.T201insFs

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
7 papers
NM_016630.7
p.T201insFs
c.601_602insA
Surrounding Variants
3 papers
NM_016630.7
p.T201fs
c.601_602fs
1 paper
NM_016630.7
p.N203S
c.608A>G
1 paper
NM_016630.7
p.Q193R
c.578A>G
1 paper
NM_016630.7
p.R187_L188Splc
c.562-2A>G
2 papers
NM_016630.7
p.A180T
c.538G>A
3 papers
NM_016630.7
p.I163delFs
c.487delT
2 papers
NM_016630.7
p.F152_W153del2
c.454_458del6
1 paper
NM_016630.7
p.D226H
c.676G>C
1 paper
NM_016630.7
p.A245G
c.734C>G
1 paper
NM_016630.7
p.T252K
c.755C>A
1 paper
NM_016630.7
p.Q270_I271Splc
c.810+1G>A
1 paper
NM_016630.7
p.S151Splc
c.452+6A>T
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