Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.V319V

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.V319V
c.957C>T
Surrounding Variants
2 papers
NM_054027.6
p.A321A
c.963A>G
1 paper
NM_054027.6
p.F327L
c.979T>C
1 paper
NM_054027.6
p.F327L
c.981C>G
1 paper
NM_054027.6
p.F327L
c.981C>A
7 papers
NM_054027.6
p.C331R
c.991T>C
1 paper
NM_054027.6
p.M332I
c.996G>A
3 papers
NM_054027.6
p.L334R
c.1001T>G
1 paper
NM_054027.6
p.T337_L338Splc
c.1011+15T>G
1 paper
NM_054027.6
p.P301P
c.903T>C
1 paper
NM_054027.6
p.P301L
c.902C>T
1 paper
NM_054027.6
p.P301T
c.901C>A
2 papers
NM_054027.6
p.E295del1
c.883_884delTTC
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