Varaico: Literature-Extracted Genetic Variants

Gene:HAPLN1
Variant:p.V112A

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.V112A
c.335T>C
Surrounding Variants
1 paper
NM_001884.4
p.G116E
c.347G>A
1 paper
NM_001884.4
p.T104N
c.311C>A
1 paper
NM_001884.4
p.D121N
c.361G>A
1 paper
NM_001884.4
p.E91K
c.271G>A
1 paper
NM_001884.4
p.L89L
c.267C>G
1 paper
NM_001884.4
p.R78Q
c.233G>A
1 paper
NM_001884.4
p.A69S
c.205G>T
1 paper
NM_001884.4
p.T68A
c.202A>G
1 paper
NM_001884.4
p.R53*
c.157A>T
1 paper
NM_001884.4
p.R166*
c.496C>T
1 paper
NM_001884.4
p.Q179P
c.536A>C
1 paper
NM_001884.4
p.A197D
c.590C>A
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