Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.K3N

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.K3N
c.9G>T
Surrounding Variants
1 paper
NM_005335.6
p.K3N
c.9G>C
1 paper
NM_005335.6
p.K3R
c.8A>G
1 paper
NM_005335.6
p.M1_K3ins1
c.2_7dup6
1 paper
NM_005335.6
p.W2insFs
c.4dupT
1 paper
NM_005335.6
p.M1delFs
c.3delC
1 paper
NM_005335.6
p.M1I
c.3G>T
3 papers
NM_005335.6
p.M1I
c.3G>A
1 paper
NM_005335.6
p.M1insFs
c.2_3insC
1 paper
NM_005335.6
p.M1insFs
c.1_2insA
1 paper
NM_005335.6
p.M1K
c.2T>A
1 paper
NM_005335.6
p.G7C
c.19G>T
1 paper
NM_005335.6
p.G7A
c.20G>C
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