Varaico: Literature-Extracted Genetic Variants

Gene:FBRSL1
Variant:p.Q420H

FBRSL1

69 papers

Pfam Domains

Auts2aa 551–748UCSCAutism susceptibility gene 2 protein

Gene Aliases

HGNC Name

fibrosin like 1

HGNC Alias Symbol

KIAA1545

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367871.1
p.Q420H
c.1260G>T
Surrounding Variants
1 paper
NM_001367871.1
p.Q420H
c.1260G>C
1 paper
NM_001367871.1
p.V444M
c.1330G>A
1 paper
NM_001367871.1
p.S446_G447insTA
c.1336_1340ins6
1 paper
NM_001367871.1
p.K347E
c.1039A>G
1 paper
NM_001367871.1
p.L332P
c.995T>C
1 paper
NM_001367871.1
p.A329_N330delFs
c.987_988delCA
1 paper
NM_001367871.1
p.A328S
c.982G>T
1 paper
NM_001367871.1
p.R307H
c.920G>A
1 paper
NM_001367871.1
p.P304P
c.912G>A
1 paper
NM_001367871.1
p.A293T
c.877G>A
1 paper
NM_001367871.1
p.A293fs
c.877_878fs
1 paper
NM_001367871.1
p.P292delFs
c.876delC
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