Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.H8Y

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.H8Y
c.22C>T
Surrounding Variants
1 paper
NM_005335.6
p.H8D
c.22C>G
1 paper
NM_005335.6
p.G7A
c.20G>C
1 paper
NM_005335.6
p.G7C
c.19G>T
1 paper
NM_005335.6
p.D9V
c.26A>T
1 paper
NM_005335.6
p.V10L
c.28G>T
1 paper
NM_005335.6
p.V10M
c.28G>A
1 paper
NM_005335.6
p.V10insFs
c.29_30insA
1 paper
NM_005335.6
p.V10A
c.29T>C
1 paper
NM_005335.6
p.V10E
c.29T>A
2 papers
NM_005335.6
p.S11F
c.32C>T
1 paper
NM_005335.6
p.S11C
c.32C>G
1 paper
NM_005335.6
p.V12F
c.34G>T
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