Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.E39*

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.E39*
c.115G>T
Surrounding Variants
2 papers
NM_133638.6
p.R38G
c.112C>G
1 paper
NM_133638.6
p.V54_A64del11
c.160_191del33
1 paper
NM_133638.6
p.V54_A64del0
c.162_191del30
1 paper
NM_133638.6
p.G58S
c.172G>A
1 paper
NM_133638.6
p.G59_S60delFs
c.177_180del4
1 paper
NM_133638.6
p.G67delFs
c.200delG
1 paper
NM_133638.6
p.G67fs
c.199_200fs
1 paper
NM_133638.6
p.G67A
c.200G>C
1 paper
NM_133638.6
p.S105*
c.314C>A
1 paper
NM_133638.6
p.P129L
c.386C>T
1 paper
NM_133638.6
p.A136V
c.407C>T
1 paper
NM_133638.6
p.S139fs
c.415_416fs
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