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.C154S

c.461G>C

Surrounding Variants

1 paper

NM_000053.4

p.C154R

c.460T>C

1 paper

NM_000053.4

p.C154S

c.460T>A

1 paper

NM_000053.4

p.C154C

c.462C>T

2 papers

NM_000053.4

p.Q155*

c.463C>T

1 paper

NM_000053.4

p.M152V

c.454A>G

5 papers

NM_000053.4

p.G151delFs

c.453delG

7 papers

NM_000053.4

p.E150_G151delFs

c.448_452del5

4 papers

NM_000053.4

p.C157F

c.470G>T

2 papers

NM_000053.4

p.C157Y

c.470G>A

1 paper

NM_000053.4

p.G151D

c.452G>A

1 paper

NM_000053.4

p.V149_G151Fs

c.447_452delinsCFs

1 paper

NM_000053.4

p.C157C

c.471T>C