Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.L294delFs

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.L294delFs
c.880delG
Surrounding Variants
1 paper
NM_005335.6
p.V290_L294delFs
c.870_880del11
1 paper
NM_005335.6
p.P295A
c.883C>G
1 paper
NM_005335.6
p.P295fs
c.883_884fs
1 paper
NM_005335.6
p.P293P
c.879A>G
1 paper
NM_005335.6
p.P295R
c.884C>G
1 paper
NM_005335.6
p.P293R
c.878C>G
1 paper
NM_005335.6
p.P293Q
c.878C>A
1 paper
NM_005335.6
p.P293T
c.877C>A
1 paper
NM_005335.6
p.A292A
c.876C>G
1 paper
NM_005335.6
p.P295delFs
c.884delG
1 paper
NM_005335.6
p.A292insFs
c.874_875insA
1 paper
NM_005335.6
p.P291P
c.873G>C
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