Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.T282I

ANKH

252 papers

RefSeq Summary

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyropho...

Pfam Domains

ANKHaa 1–345UCSCProgressive ankylosis protein (ANKH)

Gene Aliases

HGNC Name

ANKH inorganic pyrophosphate transport regulator

HGNC Previous Symbols

CCAL2; CMDJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_054027.6
p.T282I
c.845C>T
Surrounding Variants
1 paper
NM_054027.6
p.T280P
c.838A>C
1 paper
NM_054027.6
p.G286D
c.857G>A
2 papers
NM_054027.6
p.Y290H
c.868T>C
1 paper
NM_054027.6
p.Y290C
c.869A>G
2 papers
NM_054027.6
p.Y290*
c.870C>G
1 paper
NM_054027.6
p.Y290del1
c.868_869delGTA
1 paper
NM_054027.6
p.V285_Y290del0
c.853_870del18
5 papers
NM_054027.6
p.W292R
c.874T>C
5 papers
NM_054027.6
p.W292R
c.874T>A
1 paper
NM_054027.6
p.L293S
c.878T>C
1 paper
NM_054027.6
p.W292_E295delFs
c.874_883del10
2 papers
NM_054027.6
p.E295del1
c.883_884delTTC
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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."