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

5 papers

NM_000053.4

p.R198G

c.592A>G

Surrounding Variants

1 paper

NM_000053.4

p.R198K

c.593G>A

1 paper

NM_000053.4

p.D199N

c.595G>A

3 papers

NM_000053.4

p.L197F

c.589C>T

15 papers

NM_000053.4

p.D196E

c.588C>G

18 papers

NM_000053.4

p.D196E

c.588C>A

1 paper

NM_000053.4

p.D199G

c.596A>G

1 paper

NM_000053.4

p.D199A

c.596A>C

1 paper

NM_000053.4

p.H200L

c.599A>T

1 paper

NM_000053.4

p.H200insFs

c.598dupC

1 paper

NM_000053.4

p.V201I

c.601G>A

1 paper

NM_000053.4

p.P194P

c.582C>T

2 papers

NM_000053.4

p.P194R

c.581C>G