Varaico: Literature-Extracted Genetic Variants

Gene:HAPLN4
Variant:p.A179V

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
3 papers
NM_023002.3
p.A179V
c.536C>T
Surrounding Variants
1 paper
NM_023002.3
p.G171A
c.512G>C
1 paper
NM_023002.3
p.R170H
c.509G>A
1 paper
NM_023002.3
p.A200V
c.599C>T
1 paper
NM_023002.3
p.R203P
c.608G>C
1 paper
NM_023002.3
p.R203H
c.608G>A
2 papers
NM_023002.3
p.A211T
c.631G>A
1 paper
NM_023002.3
p.R215C
c.643C>T
1 paper
NM_023002.3
p.P226T
c.676C>A
1 paper
NM_023002.3
p.R227W
c.679C>T
1 paper
NM_023002.3
p.R227Q
c.680G>A
1 paper
NM_023002.3
p.G235fs
c.703_704fs
1 paper
NM_023002.3
p.G235delFs
c.705delC
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