Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.A343P

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.A343P
c.1027G>C
Surrounding Variants
1 paper
NM_005335.6
p.A343S
c.1027G>T
1 paper
NM_005335.6
p.A343G
c.1028C>G
1 paper
NM_005335.6
p.L344L
c.1030C>T
1 paper
NM_005335.6
p.P342A
c.1024C>G
2 papers
NM_005335.6
p.P342T
c.1024C>A
1 paper
NM_005335.6
p.P346A
c.1036C>G
1 paper
NM_005335.6
p.E339Q
c.1015G>C
1 paper
NM_005335.6
p.E339K
c.1015G>A
1 paper
NM_005335.6
p.N338insFs
c.1013_1014insT
1 paper
NM_005335.6
p.T348I
c.1043C>T
1 paper
NM_005335.6
p.D337delFs
c.1009delC
1 paper
NM_005335.6
p.D337N
c.1009G>A
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