Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.M48T

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
11 papers
NM_054027.6
p.M48T
c.143T>C
Surrounding Variants
1 paper
NM_054027.6
p.M48R
c.143T>G
1 paper
NM_054027.6
p.M48K
c.143T>A
1 paper
NM_054027.6
p.E47K
c.139G>A
1 paper
NM_054027.6
p.A50G
c.149C>G
1 paper
NM_054027.6
p.Y52C
c.155A>G
1 paper
NM_054027.6
p.E43D
c.129G>T
1 paper
NM_054027.6
p.E43D
c.129G>C
1 paper
NM_054027.6
p.M59I
c.177G>T
1 paper
NM_054027.6
p.M59I
c.177G>C
1 paper
NM_054027.6
p.M59I
c.177G>A
1 paper
NM_054027.6
p.R36W
c.106C>T
1 paper
NM_054027.6
p.K60del1
c.178_179delCTT
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