Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.A364G

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.A364G
c.1091C>G
Surrounding Variants
1 paper
NM_054027.6
p.A364P
c.1090G>C
1 paper
NM_054027.6
p.E365E
c.1095A>G
1 paper
NM_054027.6
p.A362V
c.1085C>T
1 paper
NM_054027.6
p.C367F
c.1100G>T
1 paper
NM_054027.6
p.I357F
c.1069A>T
1 paper
NM_054027.6
p.R372Q
c.1115G>A
1 paper
NM_054027.6
p.I354K
c.1061T>A
16 papers
NM_054027.6
p.S375del1
c.1123_1124delGGA
26 papers
NM_054027.6
p.F377del1
c.1129_1130delGAA
1 paper
NM_054027.6
p.P380_V381ins1
c.1138_1142ins3
1 paper
NM_054027.6
p.N347K
c.1041C>A
1 paper
NM_054027.6
p.V341M
c.1021G>A
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