Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E180*

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.E180*
c.538G>T
Surrounding Variants
1 paper
NM_005335.6
p.G179*
c.535G>T
1 paper
NM_005335.6
p.T181A
c.541A>G
1 paper
NM_005335.6
p.K178T
c.533A>C
1 paper
NM_005335.6
p.E182*
c.544G>T
1 paper
NM_005335.6
p.E182K
c.544G>A
1 paper
NM_005335.6
p.D176_Y177insFs
c.528_529insCT
1 paper
NM_005335.6
p.K183N
c.549A>T
1 paper
NM_005335.6
p.D176G
c.527A>G
1 paper
NM_005335.6
p.K183N
c.549A>C
1 paper
NM_005335.6
p.D176N
c.526G>A
1 paper
NM_005335.6
p.D176Fs
c.526delinsCAFs
1 paper
NM_005335.6
p.H184N
c.550C>A
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