Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.E440*

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
5 papers
NM_054027.6
p.E440*
c.1318G>T
Surrounding Variants
1 paper
NM_054027.6
p.A435V
c.1304C>T
1 paper
NM_054027.6
p.A447T
c.1339G>A
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
1 paper
NM_054027.6
p.A401A
c.1203C>A
1 paper
NM_054027.6
p.T393_T397del0
c.1178_1189del12
1 paper
NM_054027.6
p.K396del1
c.1186_1187delTTT
2 papers
NM_054027.6
p.L391P
c.1172T>C
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