Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.V436L

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
5 papers
NM_005335.6
p.V436L
c.1306G>C
Surrounding Variants
4 papers
NM_005335.6
p.V436L
c.1306G>T
1 paper
NM_005335.6
p.A435S
c.1303G>T
1 paper
NM_005335.6
p.A435P
c.1303G>C
1 paper
NM_005335.6
p.A435T
c.1303G>A
1 paper
NM_005335.6
p.A433fs
c.1297_1298fs
1 paper
NM_005335.6
p.Q440*
c.1318C>T
1 paper
NM_005335.6
p.I431fs
c.1291_1292fs
1 paper
NM_005335.6
p.G441R
c.1321G>A
1 paper
NM_005335.6
p.I431L
c.1291A>C
1 paper
NM_005335.6
p.E442*
c.1324G>T
2 papers
NM_005335.6
p.E442Q
c.1324G>C
1 paper
NM_005335.6
p.L429delFs
c.1285delG
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