Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.V28_N29Splc

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
3 papers
NM_005335.6
p.V28_N29Splc
c.85-1G>A
Surrounding Variants
1 paper
NM_005335.6
p.D30Y
c.88G>T
1 paper
NM_005335.6
p.D30N
c.88G>A
1 paper
NM_005335.6
p.D30E
c.90C>A
1 paper
NM_005335.6
p.I31insFs
c.92_93insT
1 paper
NM_005335.6
p.S32fs
c.94_95fs
1 paper
NM_005335.6
p.S32C
c.95C>G
1 paper
NM_005335.6
p.E33K
c.97G>A
1 paper
NM_005335.6
p.E33G
c.98A>G
1 paper
NM_005335.6
p.E35V
c.104A>T
1 paper
NM_005335.6
p.E35D
c.105G>T
1 paper
NM_005335.6
p.E35D
c.105G>C
1 paper
NM_005335.6
p.Q36*
c.106C>T
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