Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.K102_V103Splc

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.K102_V103Splc
c.306+6T>A
Surrounding Variants
1 paper
NM_016630.7
p.L76L
c.226T>C
2 papers
NM_016630.7
p.A75_L76Splc
c.226-1G>A
7 papers
NM_016630.7
p.A108P
c.322G>C
2 papers
NM_016630.7
p.S109A
c.325T>G
1 paper
NM_016630.7
p.A115_Q116delFs
c.345_346delGG
1 paper
NM_016630.7
p.A115_F118insFs
c.343_352dup10
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.A75T
c.223G>A
2 papers
NM_016630.7
p.V52fs
c.154_155fs
3 papers
NM_016630.7
p.P51delFs
c.153delA
2 papers
NM_016630.7
p.P51delFs
c.152_153delAG
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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."