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

9 papers

NM_000053.4

p.N728S

c.2183A>G

Surrounding Variants

1 paper

NM_000053.4

p.N728I

c.2183A>T

1 paper

NM_000053.4

p.H724_N728delFs

c.2170_2182del13

1 paper

NM_000053.4

p.N728_M729insFs

c.2184_2185insA

3 papers

NM_000053.4

p.N728D

c.2182A>G

1 paper

NM_000053.4

p.A727A

c.2181C>T

8 papers

NM_000053.4

p.M729V

c.2185A>G

2 papers

NM_000053.4

p.M729_D730insTT

c.2185_2189ins6

1 paper

NM_001330579.2

p.M645R

c.1934T>G

2 papers

NM_000053.4

p.A727V

c.2180C>T

1 paper

NM_000053.4

p.A727D

c.2180C>A

1 paper

NM_000053.4

p.M729I

c.2187G>T

2 papers

NM_000053.4

p.A727P

c.2179G>C