Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.W21C

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.W21C
c.63G>T
Surrounding Variants
1 paper
NM_005335.6
p.W21C
c.63G>C
1 paper
NM_005335.6
p.D20V
c.59A>T
1 paper
NM_005335.6
p.T23A
c.67A>G
1 paper
NM_005335.6
p.G18_D22delFs
c.53_66del14
1 paper
NM_005335.6
p.D20H
c.58G>C
1 paper
NM_005335.6
p.P25A
c.73C>G
1 paper
NM_005335.6
p.G18S
c.52G>A
1 paper
NM_005335.6
p.Q17insFs
c.50dupA
1 paper
NM_005335.6
p.D26Y
c.76G>T
1 paper
NM_005335.6
p.P25_D26delFs
c.75_76delCA
1 paper
NM_005335.6
p.T16N
c.47C>A
2 papers
NM_005335.6
p.E15D
c.45G>T
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