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.E429Splc

c.1285+1G>A

Surrounding Variants

1 paper

NM_000053.4

p.E429Splc

c.1285+2T>A

1 paper

NM_000053.4

p.S428A

c.1282T>G

9 papers

NM_000053.4

p.E429Splc

c.1285+5G>T

2 papers

NM_000053.4

p.V426V

c.1278C>T

1 paper

NM_000053.4

p.S425S

c.1275A>G

1 paper

NM_000053.4

p.S425T

c.1273T>A

1 paper

NM_000053.4

p.A424V

c.1271C>T

2 papers

NM_000053.4

p.A424P

c.1270G>C

1 paper

NM_000053.4

p.E423A

c.1268A>C

1 paper

NM_000053.4

p.G421delFs

c.1262delC

1 paper

NM_000053.4

p.G421E

c.1262G>A

1 paper

NM_000053.4

p.M420fs

c.1258_1259fs