Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.Q113insFs

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.Q113insFs
c.339dupG
Surrounding Variants
1 paper
NM_005335.6
p.A116P
c.346G>C
2 papers
NM_005335.6
p.A116T
c.346G>A
1 paper
NM_005335.6
p.A117S
c.349G>T
1 paper
NM_005335.6
p.H110R
c.329A>G
1 paper
NM_005335.6
p.H110N
c.328C>A
1 paper
NM_005335.6
p.E108*
c.322G>T
1 paper
NM_005335.6
p.E108K
c.322G>A
1 paper
NM_005335.6
p.F120S
c.359T>C
1 paper
NM_005335.6
p.V107M
c.319G>A
1 paper
NM_005335.6
p.A117_F120del4
c.349_359del12
1 paper
NM_005335.6
p.G121G
c.363G>C
1 paper
NM_005335.6
p.E106V
c.317A>T
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