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

1 paper

NM_000053.4

p.P189L

c.566C>T

Surrounding Variants

3 papers

NM_000053.4

p.Y187_Q188del1

c.561_563delTGA

2 papers

NM_000053.4

p.P189insFs

c.567dupT

3 papers

NM_000053.4

p.Q188*

c.562C>T

6 papers

NM_000053.4

p.Y187*

c.561T>G

6 papers

NM_000053.4

p.Y187*

c.561T>A

1 paper

NM_000053.4

p.Y187F

c.560A>T

1 paper

NM_000053.4

p.Y187delFs

c.559delA

1 paper

NM_000053.4

p.V176_L191del16

c.526_572del48

1 paper

NM_000053.4

p.L191_I192delFs

c.571_574del4

2 papers

NM_000053.4

p.L178_I192delFs

c.532_574del43

1 paper

NM_000053.4

p.I192_Q193insFs

c.576_577insG

1 paper

NM_000053.4

p.Q193fs

c.577_578fs