Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.A270D

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.A270D
c.809C>A
Surrounding Variants
1 paper
NM_005335.6
p.A270S
c.808G>T
1 paper
NM_005335.6
p.V271L
c.811G>T
1 paper
NM_005335.6
p.V271L
c.811G>C
1 paper
NM_005335.6
p.V271M
c.811G>A
1 paper
NM_005335.6
p.T272A
c.814A>G
1 paper
NM_005335.6
p.R268G
c.802C>G
1 paper
NM_005335.6
p.R274W
c.820A>T
1 paper
NM_005335.6
p.Q266*
c.796C>T
1 paper
NM_005335.6
p.Q266K
c.796C>A
1 paper
NM_005335.6
p.S275C
c.823A>T
1 paper
NM_005335.6
p.S275R
c.825C>A
1 paper
NM_005335.6
p.R264S
c.792G>C
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