Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.D129N

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.D129N
c.385G>A
Surrounding Variants
1 paper
NM_005335.6
p.D129G
c.386A>G
1 paper
NM_005335.6
p.R128K
c.383G>A
1 paper
NM_005335.6
p.R130G
c.388A>G
2 papers
NM_005335.6
p.R130K
c.389G>A
1 paper
NM_005335.6
p.E127delFs
c.379delC
1 paper
NM_005335.6
p.A131S
c.391G>T
1 paper
NM_005335.6
p.A131P
c.391G>C
2 papers
NM_005335.6
p.E127K
c.379G>A
1 paper
NM_005335.6
p.D129_R130delFs
c.386_390del5
1 paper
NM_005335.6
p.A131V
c.392C>T
1 paper
NM_005335.6
p.A131E
c.392C>A
1 paper
NM_005335.6
p.V126F
c.376G>T
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