Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.F4delFs

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.F4delFs
c.11delA
Surrounding Variants
1 paper
NM_054027.6
p.P5S
c.13C>T
5 papers
NM_054027.6
p.P5T
c.13C>A
1 paper
NM_054027.6
p.F4V
c.10T>G
10 papers
NM_054027.6
p.P5L
c.14C>T
1 paper
NM_054027.6
p.P5P
c.15G>A
2 papers
NM_054027.6
p.K3N
c.9A>T
2 papers
NM_054027.6
p.K3N
c.9A>C
1 paper
NM_054027.6
p.K3T
c.8A>C
1 paper
NM_054027.6
p.L7I
c.19C>A
2 papers
NM_054027.6
p.V2M
c.4G>A
1 paper
NM_054027.6
p.M1I
c.3G>A
1 paper
NM_054027.6
p.M1V
c.1A>G
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