Varaico: Literature-Extracted Genetic Variants

Gene:HAPLN4
Variant:p.N270H

HAPLN4

46 papers

Pfam Domains

V-setaa 51–158UCSCImmunoglobulin V-set domain
Xlinkaa 163–267UCSCExtracellular link domain
Xlinkaa 274–364UCSCExtracellular link domain

Gene Aliases

HGNC Name

hyaluronan and proteoglycan link protein 4

HGNC Alias Symbols

BRAL2; KIAA1926

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023002.3
p.N270H
c.808A>C
Surrounding Variants
1 paper
NM_023002.3
p.D263H
c.787G>C
1 paper
NM_023002.3
p.D263N
c.787G>A
1 paper
NM_023002.3
p.R255H
c.764G>A
1 paper
NM_023002.3
p.R250H
c.749G>A
1 paper
NM_023002.3
p.R250C
c.748C>T
1 paper
NM_023002.3
p.N246N
c.738C>T
1 paper
NM_023002.3
p.T236fs
c.706_707fs
1 paper
NM_023002.3
p.T236delFs
c.706delT
1 paper
NM_023002.3
p.G235delFs
c.705delC
1 paper
NM_023002.3
p.G235fs
c.703_704fs
1 paper
NM_023002.3
p.R227Q
c.680G>A
1 paper
NM_023002.3
p.R227W
c.679C>T
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