Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

2 papers

NM_000053.4

p.I1230T

c.3689T>C

Surrounding Variants

20 papers

NM_000053.4

p.I1230V

c.3688A>G

1 paper

NM_000053.4

p.A1231T

c.3691G>A

1 paper

NM_000053.4

p.A1229G

c.3686C>G

18 papers

NM_000053.4

p.T1232P

c.3694A>C

4 papers

NM_000053.4

p.R1228T

c.3683G>C

1 paper

NM_000053.4

p.T1232I

c.3695C>T

4 papers

NM_000053.4

p.R1228*

c.3682A>T

2 papers

NM_000053.4

p.Q1233*

c.3697C>T

2 papers

NM_000053.4

p.A1227V

c.3680C>T

2 papers

NM_000053.4

p.A1227D

c.3680C>A

1 paper

NM_000053.4

p.A1227P

c.3679G>C

1 paper

NM_000053.4

p.T1226delFs

c.3678delT