Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E369*

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.E369*
c.1105G>T
Surrounding Variants
2 papers
NM_005335.6
p.P368P
c.1104C>T
1 paper
NM_005335.6
p.P366_P368ins1
c.1098_1103dup6
4 papers
NM_005335.6
p.P364_P368ins1
c.1092_1103dup12
1 paper
NM_005335.6
p.P368P
c.1104C>A
1 paper
NM_005335.6
p.P368ins4
c.1103_1104ins12
1 paper
NM_005335.6
p.E367A
c.1100A>C
1 paper
NM_005335.6
p.E371Q
c.1111G>C
1 paper
NM_005335.6
p.E371K
c.1111G>A
1 paper
NM_005335.6
p.P366L
c.1097C>T
1 paper
NM_005335.6
p.P366S
c.1096C>T
1 paper
NM_005335.6
p.P372P
c.1116C>G
1 paper
NM_005335.6
p.E365A
c.1094A>C
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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."