Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6L
Variant:p.Q426H

SEZ6L

81 papers

Pfam Domains

Sushiaa 393–448UCSCSushi repeat (SCR repeat)
CUBaa 452–559UCSCCUB domain
Sushiaa 567–624UCSCSushi repeat (SCR repeat)
CUBaa 628–736UCSCCUB domain
Sushiaa 745–800UCSCSushi repeat (SCR repeat)
Sushiaa 806–865UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

seizure related 6 homolog like

HGNC Alias Symbol

SEZ6L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021115.5
p.Q426H
c.1278G>C
Surrounding Variants
1 paper
NM_021115.5
p.Q426H
c.1278G>T
1 paper
NM_021115.5
p.A428T
c.1282G>A
5 papers
NM_021115.5
p.M430I
c.1290G>A
5 papers
NM_021115.5
p.M430I
c.1290G>C
6 papers
NM_021115.5
p.M430I
c.1290G>T
1 paper
NM_021115.5
p.L421R
c.1262T>G
1 paper
NM_021115.5
p.I447insFs
c.1339_1340insC
1 paper
NM_021115.5
p.T405M
c.1214C>T
1 paper
NM_021115.5
p.T381N
c.1142C>A
1 paper
NM_021115.5
p.R361G
c.1081C>G
1 paper
NM_021115.5
p.P343P
c.1029T>C
1 paper
NM_021115.5
p.N311N
c.933C>T
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