Varaico: Literature-Extracted Genetic Variants

Gene:HAPLN1
Variant:p.C325delFs

HAPLN1

50 papers

Pfam Domains

V-setaa 44–152UCSCImmunoglobulin V-set domain
Xlinkaa 159–253UCSCExtracellular link domain
Xlinkaa 260–350UCSCExtracellular link domain

Gene Aliases

HGNC Name

hyaluronan and proteoglycan link protein 1

HGNC Previous Symbol

CRTL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001884.4
p.C325delFs
c.974delC
Surrounding Variants
1 paper
NM_001884.4
p.A330T
c.988G>A
1 paper
NM_001884.4
p.P321S
c.961C>T
2 papers
NM_001884.4
p.R333H
c.998G>A
2 papers
NM_001884.4
p.G336S
c.1006G>A
1 paper
NM_001884.4
p.Y345H
c.1033T>C
1 paper
NM_001884.4
p.I286I
c.858T>C
1 paper
NM_001884.4
p.N281D
c.841A>G
1 paper
NM_001884.4
p.R260H
c.779G>A
1 paper
NM_001884.4
p.D249N
c.745G>A
1 paper
NM_001884.4
p.G239R
c.715G>C
1 paper
NM_001884.4
p.G239R
c.715G>A
1 paper
NM_001884.4
p.G228G
c.684G>C
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