Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.K326R

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.K326R
c.977A>G
Surrounding Variants
1 paper
NM_133638.6
p.A342A
c.1026A>T
1 paper
NM_133638.6
p.K306delFs
c.918delA
1 paper
NM_133638.6
p.H347Q
c.1041T>A
1 paper
NM_133638.6
p.H347Q
c.1041T>G
1 paper
NM_133638.6
p.D350Y
c.1048G>T
3 papers
NM_133638.6
p.L360I
c.1078T>A
4 papers
NM_133638.6
p.S373G
c.1117A>G
1 paper
NM_133638.6
p.H387Y
c.1159C>T
1 paper
NM_133638.6
p.E388V
c.1163A>T
1 paper
NM_133638.6
p.E388E
c.1164A>G
1 paper
NM_133638.6
p.D419_H421del3
c.1255_1262del9
1 paper
NM_133638.6
p.W428insFs
c.1282_1283insCG
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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."