Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E383Fs

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.E383Fs
c.1149delinsTTFs
Surrounding Variants
1 paper
NM_005335.6
p.M384I
c.1152G>C
1 paper
NM_005335.6
p.D385ins4
c.1153_1154ins12
1 paper
NM_005335.6
p.E382*
c.1144G>T
1 paper
NM_005335.6
p.D385ins4
c.1153_1154ins12
1 paper
NM_005335.6
p.D380E
c.1140C>G
1 paper
NM_005335.6
p.D380E
c.1140C>A
1 paper
NM_005335.6
p.D380N
c.1138G>A
1 paper
NM_005335.6
p.D380fs
c.1138_1139fs
1 paper
NM_005335.6
p.E388Q
c.1162G>C
2 papers
NM_005335.6
p.E388K
c.1162G>A
2 papers
NM_005335.6
p.E379A
c.1136A>C
2 papers
NM_005335.6
p.Y378F
c.1133A>T
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