Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.K249N

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.K249N
c.747G>T
Surrounding Variants
1 paper
NM_005335.6
p.K251*
c.751A>T
1 paper
NM_005335.6
p.E248K
c.742G>A
1 paper
NM_005335.6
p.K251N
c.753G>T
1 paper
NM_005335.6
p.E253D
c.759G>T
1 paper
NM_005335.6
p.E253D
c.759G>C
1 paper
NM_005335.6
p.E254D
c.762A>T
1 paper
NM_005335.6
p.E255A
c.764A>C
1 paper
NM_005335.6
p.E243E
c.729G>A
1 paper
NM_005335.6
p.E243*
c.727G>T
1 paper
NM_005335.6
p.F242S
c.725T>C
1 paper
NM_005335.6
p.K257_A258insTA
c.769_773ins6
1 paper
NM_005335.6
p.F242I
c.724T>A
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