Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.R264T

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.R264T
c.791G>C
Surrounding Variants
1 paper
NM_005335.6
p.R264S
c.792G>C
1 paper
NM_005335.6
p.R264W
c.790A>T
1 paper
NM_005335.6
p.R263S
c.789G>T
1 paper
NM_005335.6
p.R263S
c.789G>C
2 papers
NM_005335.6
p.R263K
c.788G>A
1 paper
NM_005335.6
p.Q266*
c.796C>T
1 paper
NM_005335.6
p.Q266K
c.796C>A
1 paper
NM_005335.6
p.A262V
c.785C>T
1 paper
NM_005335.6
p.A262S
c.784G>T
1 paper
NM_005335.6
p.V261L
c.781G>C
1 paper
NM_005335.6
p.R268G
c.802C>G
1 paper
NM_005335.6
p.Q260K
c.778C>A
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