Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.P419T

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.P419T
c.1255C>A
Surrounding Variants
1 paper
NM_005335.6
p.A420S
c.1258G>T
1 paper
NM_005335.6
p.A420T
c.1258G>A
1 paper
NM_005335.6
p.G417V
c.1250G>T
1 paper
NM_005335.6
p.G421R
c.1261G>C
1 paper
NM_005335.6
p.G421R
c.1261G>A
1 paper
NM_005335.6
p.G417S
c.1249G>A
1 paper
NM_005335.6
p.A422S
c.1264G>T
1 paper
NM_005335.6
p.S416fs
c.1246_1247fs
1 paper
NM_005335.6
p.S415L
c.1244C>T
1 paper
NM_005335.6
p.S416_A422delFs
c.1247_1266del20
1 paper
NM_005335.6
p.G423_A424insFs
c.1269_1270insT
1 paper
NM_005335.6
p.G414fs
c.1240_1241fs
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