Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.I43V

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.I43V
c.127A>G
Surrounding Variants
1 paper
NM_005335.6
p.I43F
c.127A>T
1 paper
NM_005335.6
p.T42N
c.125C>A
1 paper
NM_005335.6
p.E44Q
c.130G>C
1 paper
NM_005335.6
p.K41N
c.123G>T
1 paper
NM_005335.6
p.G45R
c.133G>A
1 paper
NM_005335.6
p.A40D
c.119C>A
1 paper
NM_005335.6
p.G45_S46Fs
c.134_136delinsCCFs
2 papers
NM_005335.6
p.A40S
c.118G>T
1 paper
NM_005335.6
p.A40T
c.118G>A
1 paper
NM_005335.6
p.S46F
c.137C>T
1 paper
NM_005335.6
p.G39G
c.117A>C
1 paper
NM_005335.6
p.W38delFs
c.113delC
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