Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.G208S

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.G208S
c.622G>A
Surrounding Variants
1 paper
NM_133638.6
p.N204_P205ins2
c.612_613ins6
1 paper
NM_133638.6
p.A212P
c.634G>C
1 paper
NM_133638.6
p.R202_P203ins0
c.604_609dup6
1 paper
NM_133638.6
p.E200*
c.598G>T
3 papers
NM_133638.6
p.A198_V199ins2
c.594_595ins6
1 paper
NM_133638.6
p.Q217R
c.650A>G
1 paper
NM_133638.6
p.P222L
c.665C>T
1 paper
NM_133638.6
p.A231_L233del0
c.691_699del9
1 paper
NM_133638.6
p.L185M
c.553C>A
1 paper
NM_133638.6
p.Y183*
c.549C>A
1 paper
NM_133638.6
p.A177_R180del4
c.529_539del12
1 paper
NM_133638.6
p.L172M
c.514T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."