Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E355K

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.E355K
c.1063G>A
Surrounding Variants
1 paper
NM_005335.6
p.E355Q
c.1063G>C
1 paper
NM_005335.6
p.V354M
c.1060G>A
1 paper
NM_005335.6
p.Q353*
c.1057C>T
1 paper
NM_005335.6
p.E357A
c.1070A>C
1 paper
NM_005335.6
p.L352F
c.1054C>T
1 paper
NM_005335.6
p.P358L
c.1073C>T
1 paper
NM_005335.6
p.P358Q
c.1073C>A
1 paper
NM_005335.6
p.V359L
c.1075G>C
1 paper
NM_005335.6
p.G351R
c.1051G>C
2 papers
NM_005335.6
p.G351S
c.1051G>A
1 paper
NM_005335.6
p.E350Q
c.1048G>C
1 paper
NM_005335.6
p.E361*
c.1081G>T
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