Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.R40delFs

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
2 papers
NM_016630.7
p.R40delFs
c.118delG
Surrounding Variants
5 papers
NM_016630.7
p.R40*
c.118C>T
1 paper
NM_016630.7
p.R40fs
c.118_119fs
1 paper
NM_016630.7
p.S41R
c.121A>C
1 paper
NM_016630.7
p.S41R
c.123T>G
1 paper
NM_016630.7
p.S41R
c.123T>A
1 paper
NM_016630.7
p.Y35C
c.104A>G
1 paper
NM_016630.7
p.I47L
c.139A>T
1 paper
NM_016630.7
p.S29_K30insFs
c.87_88insA
1 paper
NM_016630.7
p.P51fs
c.151_152fs
3 papers
NM_016630.7
p.P51delFs
c.153delA
2 papers
NM_016630.7
p.P51delFs
c.152_153delAG
1 paper
NM_016630.7
p.D28G
c.83A>G
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