Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.E490del1

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
7 papers
NM_054027.6
p.E490del1
c.1468_1469delCTC
Surrounding Variants
2 papers
NM_054027.6
p.P477P
c.1431G>A
1 paper
NM_054027.6
p.M472fs
c.1414_1415fs
1 paper
NM_054027.6
p.A471insFs
c.1412_1413ins28
1 paper
NM_054027.6
p.A447T
c.1339G>A
5 papers
NM_054027.6
p.E440*
c.1318G>T
1 paper
NM_054027.6
p.A435V
c.1304C>T
2 papers
NM_054027.6
p.V430L
c.1288G>T
2 papers
NM_054027.6
p.V430L
c.1288G>C
1 paper
NM_054027.6
p.H424H
c.1272C>T
1 paper
NM_054027.6
p.H424Y
c.1270C>T
1 paper
NM_054027.6
p.V423A
c.1268T>C
1 paper
NM_054027.6
p.A413T
c.1237G>A
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