Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.G100C

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.G100C
c.298G>T
Surrounding Variants
1 paper
NM_005335.6
p.V99L
c.295G>T
1 paper
NM_005335.6
p.V99L
c.295G>C
1 paper
NM_005335.6
p.A98T
c.292G>A
1 paper
NM_005335.6
p.S97I
c.290G>T
1 paper
NM_005335.6
p.Y103C
c.308A>G
1 paper
NM_005335.6
p.V104L
c.310G>C
1 paper
NM_005335.6
p.V104I
c.310G>A
1 paper
NM_005335.6
p.A105S
c.313G>T
1 paper
NM_005335.6
p.E106*
c.316G>T
2 papers
NM_005335.6
p.E106K
c.316G>A
1 paper
NM_005335.6
p.E106V
c.317A>T
1 paper
NM_005335.6
p.V107M
c.319G>A
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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."