Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.A401A

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.A401A
c.1203C>A
Surrounding Variants
1 paper
NM_054027.6
p.T393_T397del0
c.1178_1189del12
1 paper
NM_054027.6
p.K396del1
c.1186_1187delTTT
2 papers
NM_054027.6
p.L391P
c.1172T>C
1 paper
NM_054027.6
p.A413T
c.1237G>A
10 papers
NM_054027.6
p.G389R
c.1165G>C
10 papers
NM_054027.6
p.G389R
c.1165G>A
1 paper
NM_054027.6
p.T382R
c.1145C>G
4 papers
NM_054027.6
p.V381Splc
c.1142-4A>G
1 paper
NM_054027.6
p.V423A
c.1268T>C
1 paper
NM_054027.6
p.H424Y
c.1270C>T
1 paper
NM_054027.6
p.H424H
c.1272C>T
2 papers
NM_054027.6
p.V430L
c.1288G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."