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.Q70K

c.208C>A

Surrounding Variants

1 paper

NM_000053.4

p.Q70*

c.208C>T

1 paper

NM_000053.4

p.C69*

c.207C>A

1 paper

NM_000053.4

p.C69G

c.205T>G

1 paper

NM_000053.4

p.S71T

c.211T>A

1 paper

NM_000053.4

p.Q70del1

c.208_210delCTG

2 papers

NM_000053.4

p.S71S

c.213A>G

8 papers

NM_000053.4

p.S71_C72delFs

c.213_214delAT

3 papers

NM_000053.4

p.C72*

c.216T>A

4 papers

NM_000053.4

p.V73fs

c.217_218fs

4 papers

NM_000053.4

p.M67V

c.199A>G

1 paper

NM_000053.4

p.G66D

c.197G>A

1 paper

NM_000053.4

p.G66C

c.196G>T