Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.A115_F118insFs

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.A115_F118insFs
c.343_352dup10
Surrounding Variants
1 paper
NM_016630.7
p.A115_Q116delFs
c.345_346delGG
2 papers
NM_016630.7
p.S109A
c.325T>G
7 papers
NM_016630.7
p.A108P
c.322G>C
1 paper
NM_016630.7
p.S151fs
c.451_452fs
1 paper
NM_016630.7
p.S151Splc
c.452+6A>T
1 paper
NM_016630.7
p.K102_V103Splc
c.306+6T>A
1 paper
NM_016630.7
p.L76L
c.226T>C
2 papers
NM_016630.7
p.A75_L76Splc
c.226-1G>A
2 papers
NM_016630.7
p.F152_W153del2
c.454_458del6
3 papers
NM_016630.7
p.I163delFs
c.487delT
2 papers
NM_016630.7
p.A180T
c.538G>A
1 paper
NM_016630.7
p.R187_L188Splc
c.562-2A>G
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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."