Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E404G

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.E404G
c.1211A>G
Surrounding Variants
1 paper
NM_005335.6
p.E404K
c.1210G>A
1 paper
NM_005335.6
p.D405Y
c.1213G>T
1 paper
NM_005335.6
p.D405N
c.1213G>A
1 paper
NM_005335.6
p.P403H
c.1208C>A
1 paper
NM_005335.6
p.D405G
c.1214A>G
1 paper
NM_005335.6
p.D405A
c.1214A>C
1 paper
NM_005335.6
p.S406F
c.1217C>T
1 paper
NM_005335.6
p.E402K
c.1204G>A
1 paper
NM_005335.6
p.S407P
c.1219T>C
1 paper
NM_005335.6
p.L401F
c.1201C>T
2 papers
NM_005335.6
p.E399Q
c.1195G>C
1 paper
NM_005335.6
p.E398E
c.1194G>A
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