Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.Y397*

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.Y397*
c.1191T>A
Surrounding Variants
1 paper
NM_005335.6
p.Y397*
c.1191T>G
1 paper
NM_005335.6
p.E398K
c.1192G>A
3 papers
NM_005335.6
p.Y397F
c.1190A>T
1 paper
NM_005335.6
p.E398E
c.1194G>A
1 paper
NM_005335.6
p.E394_G395del2
c.1180_1184del6
2 papers
NM_005335.6
p.E399Q
c.1195G>C
1 paper
NM_005335.6
p.G395R
c.1183G>A
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.L401F
c.1201C>T
1 paper
NM_005335.6
p.E394*
c.1180G>T
1 paper
NM_005335.6
p.E402K
c.1204G>A
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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."