Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.A284D

HCLS1

420 papers

Pfam Domains

HS1_repaa 82–117UCSCRepeat in HS1/Cortactin
HS1_repaa 119–154UCSCRepeat in HS1/Cortactin
HS1_repaa 156–183UCSCRepeat in HS1/Cortactin
HS1_repaa 156–191UCSCRepeat in HS1/Cortactin
HS1_repaa 193–220UCSCRepeat in HS1/Cortactin
SH3_1aa 397–442UCSCSH3 domain

Gene Aliases

HGNC Name

hematopoietic cell-specific Lyn substrate 1

HGNC Alias Symbols

HS1; CTTNL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005335.6
p.A284D
c.851C>A
Surrounding Variants
1 paper
NM_005335.6
p.A284S
c.850G>T
1 paper
NM_005335.6
p.M285I
c.855G>T
2 papers
NM_005335.6
p.M285I
c.855G>C
1 paper
NM_005335.6
p.M285I
c.855G>A
1 paper
NM_005335.6
p.I283L
c.847A>T
1 paper
NM_005335.6
p.I283L
c.847A>C
1 paper
NM_005335.6
p.V282V
c.846G>C
1 paper
NM_005335.6
p.E286K
c.856G>A
1 paper
NM_005335.6
p.E286fs
c.856_857fs
1 paper
NM_005335.6
p.E286V
c.857A>T
1 paper
NM_005335.6
p.V282L
c.844G>T
1 paper
NM_005335.6
p.V282_I283insCG
c.844_848ins6
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