Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.Y161_K167del7

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.Y161_K167del7
c.481_500del21
Surrounding Variants
1 paper
NM_005335.6
p.D169N
c.505G>A
1 paper
NM_005335.6
p.D169V
c.506A>T
1 paper
NM_005335.6
p.K170*
c.508A>T
6 papers
NM_005335.6
p.D166N
c.496G>A
1 paper
NM_005335.6
p.A171P
c.511G>C
1 paper
NM_005335.6
p.K170_A171delins
c.510_511delinsTT
1 paper
NM_005335.6
p.K165R
c.494A>G
1 paper
NM_005335.6
p.A172S
c.514G>T
2 papers
NM_005335.6
p.A172T
c.514G>A
1 paper
NM_005335.6
p.L173R
c.518T>G
2 papers
NM_005335.6
p.L173P
c.518T>C
1 paper
NM_005335.6
p.V163L
c.487G>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."