Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.T49R

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.T49R
c.146C>G
Surrounding Variants
1 paper
NM_005335.6
p.T49S
c.145A>T
1 paper
NM_005335.6
p.R48H
c.143G>A
1 paper
NM_005335.6
p.R48G
c.142C>G
2 papers
NM_005335.6
p.H51Y
c.151C>T
1 paper
NM_005335.6
p.G47A
c.140G>C
1 paper
NM_005335.6
p.G47E
c.140G>A
1 paper
NM_005335.6
p.G47*
c.139G>T
1 paper
NM_005335.6
p.S46F
c.137C>T
1 paper
NM_005335.6
p.G45_S46Fs
c.134_136delinsCCFs
1 paper
NM_005335.6
p.N53Y
c.157A>T
1 paper
NM_005335.6
p.G45R
c.133G>A
1 paper
NM_005335.6
p.E44Q
c.130G>C
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."