Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E390D

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.E390D
c.1170G>T
Surrounding Variants
1 paper
NM_005335.6
p.E390D
c.1170G>C
1 paper
NM_005335.6
p.R386_E390del5
c.1156_1169del15
1 paper
NM_005335.6
p.R386_E390del0
c.1157_1168del12
1 paper
NM_005335.6
p.E392Q
c.1174G>C
1 paper
NM_005335.6
p.E392G
c.1175A>G
1 paper
NM_005335.6
p.E388Q
c.1162G>C
2 papers
NM_005335.6
p.E388K
c.1162G>A
1 paper
NM_005335.6
p.P393L
c.1178C>T
1 paper
NM_005335.6
p.E394*
c.1180G>T
2 papers
NM_005335.6
p.E394D
c.1182G>T
2 papers
NM_005335.6
p.E394D
c.1182G>C
1 paper
NM_005335.6
p.G395R
c.1183G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."