Varaico: Literature-Extracted Genetic Variants

Gene:GAS2L2
Variant:p.P288L

GAS2L2

73 papers

RefSeq Summary

The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 20...

Pfam Domains

CHaa 32–159UCSCCalponin homology (CH) domain
GAS2aa 206–274UCSCGrowth-Arrest-Specific Protein 2 Domain

Gene Aliases

HGNC Name

growth arrest specific 2 like 2

HGNC Alias Symbol

GAR17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_139285.4
p.P288L
c.863C>T
Surrounding Variants
1 paper
NM_139285.4
p.K280_P281delFs
c.840_841delGC
3 papers
NM_139285.4
p.V296fs
c.886_887fs
1 paper
NM_139285.4
p.V296fs
c.886_887fs
7 papers
NM_139285.4
p.V296_R297delFs
c.887_890del4
1 paper
NM_139285.4
p.T305I
c.914C>T
1 paper
NM_139285.4
p.P319H
c.956C>A
1 paper
NM_139285.4
p.R331Q
c.992G>A
1 paper
NM_139285.4
p.P335insFs
c.1004_1005insT
1 paper
NM_139285.4
p.P336L
c.1007C>T
1 paper
NM_139285.4
p.T337fs
c.1009_1010fs
1 paper
NM_139285.4
p.R342*
c.1024A>T
1 paper
NM_139285.4
p.R345G
c.1033A>G
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