Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1

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
1–12 of 640 variants
10 papers
NM_005335.6
p.E361K
c.1081G>A
6 papers
NM_005335.6
p.D166N
c.496G>A
6 papers
NM_005335.6
p.T235A
c.703A>G
5 papers
NM_005335.6
p.V436L
c.1306G>C
4 papers
NM_005335.6
p.G125R
c.373G>C
4 papers
NM_005335.6
p.G125R
c.373G>A
4 papers
NM_005335.6
p.P364_P368ins1
c.1092_1103dup12
4 papers
NM_005335.6
p.V436L
c.1306G>T
3 papers
NM_005335.6
p.M1I
c.3G>A
3 papers
NM_005335.6
p.V28_N29Splc
c.85-1G>A
3 papers
NM_005335.6
p.P288Q
c.863C>A
3 papers
NM_005335.6
p.Y397F
c.1190A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."