Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.P291Q

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.P291Q
c.872C>A
Surrounding Variants
1 paper
NM_005335.6
p.P291P
c.873G>C
1 paper
NM_005335.6
p.P291S
c.871C>T
1 paper
NM_005335.6
p.A292insFs
c.874_875insA
1 paper
NM_005335.6
p.A292A
c.876C>G
1 paper
NM_005335.6
p.P293T
c.877C>A
1 paper
NM_005335.6
p.P293R
c.878C>G
1 paper
NM_005335.6
p.P293Q
c.878C>A
1 paper
NM_005335.6
p.A289S
c.865G>T
1 paper
NM_005335.6
p.P293P
c.879A>G
1 paper
NM_005335.6
p.L294delFs
c.880delG
1 paper
NM_005335.6
p.V290_L294delFs
c.870_880del11
1 paper
NM_005335.6
p.P288R
c.863C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."