Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.I431fs

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.I431fs
c.1291_1292fs
Surrounding Variants
1 paper
NM_005335.6
p.I431L
c.1291A>C
1 paper
NM_005335.6
p.A433fs
c.1297_1298fs
1 paper
NM_005335.6
p.L429delFs
c.1285delG
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.G423_V427del5
c.1267_1280del15
1 paper
NM_005335.6
p.A428T
c.1282G>A
1 paper
NM_005335.6
p.G423_V427del0
c.1268_1279del12
4 papers
NM_005335.6
p.V436L
c.1306G>T
5 papers
NM_005335.6
p.V436L
c.1306G>C
1 paper
NM_005335.6
p.G425V
c.1274G>T
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