Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B

ATP7B

1,493 papers

RefSeq Summary

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, a...

Pfam Domains

HMAaa 61–122UCSCHeavy-metal-associated domain
HMAaa 146–207UCSCHeavy-metal-associated domain
HMAaa 260–320UCSCHeavy-metal-associated domain
HMAaa 362–423UCSCHeavy-metal-associated domain
E1-E2_ATPaseaa 400–474UCSCP-type ATPase actuator domain
HMAaa 491–552UCSCHeavy-metal-associated domain

Gene Aliases

HGNC Name

ATPase copper transporting beta

HGNC Previous Symbol

WND

Papers
RefSeq ID
Protein change
DNA change
1–12 of 3470 variants
625 papers
NM_000053.4
p.H1069Q
c.3207C>A
611 papers
NM_000053.4
p.H1069Q
c.3207C>G
411 papers
NM_000053.4
p.R778L
c.2333G>T
174 papers
NM_000053.4
p.P992L
c.2975C>T
163 papers
NM_000053.4
p.N1270S
c.3809A>G
142 papers
NM_000053.4
p.P767insFs
c.2299_2300insC
135 papers
NM_000053.4
p.A874V
c.2621C>T
97 papers
NM_000053.4
p.I1148T
c.3443T>C
91 papers
NM_000053.4
p.K832R
c.2495A>G
91 papers
NM_000053.4
p.T935M
c.2804C>T
88 papers
NM_000053.4
p.P1134delFs
c.3400delG
87 papers
NM_000053.4
p.R969Q
c.2906G>A
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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."