Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.I253F

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.I253F
c.757A>T
Surrounding Variants
1 paper
NM_054027.6
p.R255Q
c.764G>A
1 paper
NM_054027.6
p.L248L
c.742C>T
8 papers
NM_054027.6
p.L244S
c.731T>C
1 paper
NM_054027.6
p.G229_G230Splc
c.688-14G>A
2 papers
NM_054027.6
p.E227E
c.681G>A
1 paper
NM_054027.6
p.G225V
c.674G>T
1 paper
NM_054027.6
p.D222delFs
c.665delT
1 paper
NM_054027.6
p.I220V
c.658A>G
1 paper
NM_054027.6
p.T207T
c.621C>G
1 paper
NM_054027.6
p.V203M
c.607G>A
1 paper
NM_054027.6
p.A201T
c.601G>A
1 paper
NM_054027.6
p.G200V
c.599G>T
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