Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.K239E

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
2 papers
NM_005335.6
p.K239E
c.715A>G
Surrounding Variants
1 paper
NM_005335.6
p.S232_K239del0
c.695_715del21
1 paper
NM_005335.6
p.K239K
c.717G>A
1 paper
NM_005335.6
p.A240S
c.718G>T
1 paper
NM_005335.6
p.A240P
c.718G>C
1 paper
NM_005335.6
p.A240T
c.718G>A
1 paper
NM_005335.6
p.G237G
c.711G>C
1 paper
NM_005335.6
p.A240V
c.719C>T
1 paper
NM_005335.6
p.G237V
c.710G>T
1 paper
NM_005335.6
p.F242I
c.724T>A
1 paper
NM_005335.6
p.R236C
c.706C>T
1 paper
NM_005335.6
p.F242S
c.725T>C
1 paper
NM_005335.6
p.E243*
c.727G>T
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