Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.L173P

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.L173P
c.518T>C
Surrounding Variants
1 paper
NM_005335.6
p.L173R
c.518T>G
1 paper
NM_005335.6
p.G174*
c.520G>T
1 paper
NM_005335.6
p.K170_L173del4
c.508_518del12
1 paper
NM_005335.6
p.G174A
c.521G>C
1 paper
NM_005335.6
p.G174E
c.521G>A
1 paper
NM_005335.6
p.A172S
c.514G>T
2 papers
NM_005335.6
p.A172T
c.514G>A
1 paper
NM_005335.6
p.A171P
c.511G>C
1 paper
NM_005335.6
p.K170_A171delins
c.510_511delinsTT
1 paper
NM_005335.6
p.D176N
c.526G>A
1 paper
NM_005335.6
p.D176Fs
c.526delinsCAFs
1 paper
NM_005335.6
p.D176G
c.527A>G
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