Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.S275R

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.S275R
c.825C>A
Surrounding Variants
1 paper
NM_005335.6
p.P276S
c.826C>T
1 paper
NM_005335.6
p.P276T
c.826C>A
1 paper
NM_005335.6
p.S275C
c.823A>T
1 paper
NM_005335.6
p.P276P
c.828T>A
1 paper
NM_005335.6
p.E277*
c.829G>T
1 paper
NM_005335.6
p.E277K
c.829G>A
1 paper
NM_005335.6
p.R274W
c.820A>T
1 paper
NM_005335.6
p.A278V
c.833C>T
1 paper
NM_005335.6
p.A278G
c.833C>G
1 paper
NM_005335.6
p.P279S
c.835C>T
2 papers
NM_005335.6
p.P279A
c.835C>G
1 paper
NM_005335.6
p.P279insFs
c.835_836insA
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