Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.Y124C

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.Y124C
c.371A>G
Surrounding Variants
1 paper
NM_005335.6
p.Y124H
c.370T>C
4 papers
NM_005335.6
p.G125R
c.373G>C
4 papers
NM_005335.6
p.G125R
c.373G>A
1 paper
NM_005335.6
p.K123M
c.368A>T
1 paper
NM_005335.6
p.V126F
c.376G>T
1 paper
NM_005335.6
p.V126L
c.376G>C
1 paper
NM_005335.6
p.G122C
c.364G>T
1 paper
NM_005335.6
p.G121G
c.363G>C
2 papers
NM_005335.6
p.E127K
c.379G>A
1 paper
NM_005335.6
p.A117_F120del4
c.349_359del12
1 paper
NM_005335.6
p.E127delFs
c.379delC
1 paper
NM_005335.6
p.F120S
c.359T>C
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