Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.P129L

ADAMTS19

73 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a prope...

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133638.6
p.P129L
c.386C>T
Surrounding Variants
1 paper
NM_133638.6
p.A136V
c.407C>T
1 paper
NM_133638.6
p.S139fs
c.415_416fs
1 paper
NM_133638.6
p.S139delFs
c.416delC
1 paper
NM_133638.6
p.P140_G141del1
c.419_421delCGG
1 paper
NM_133638.6
p.S105*
c.314C>A
1 paper
NM_133638.6
p.L172M
c.514T>A
1 paper
NM_133638.6
p.A177_R180del4
c.529_539del12
1 paper
NM_133638.6
p.Y183*
c.549C>A
1 paper
NM_133638.6
p.L185M
c.553C>A
1 paper
NM_133638.6
p.G67A
c.200G>C
1 paper
NM_133638.6
p.G67fs
c.199_200fs
1 paper
NM_133638.6
p.G67delFs
c.200delG
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