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

4 papers

NM_000053.4

p.T1031S

c.3092C>G

Surrounding Variants

3 papers

NM_000053.4

p.T1031I

c.3092C>T

4 papers

NM_000053.4

p.T1031S

c.3091A>T

8 papers

NM_000053.4

p.T1031A

c.3091A>G

1 paper

NM_000053.4

p.G1030G

c.3090C>T

1 paper

NM_000053.4

p.G1030G

c.3090C>A

2 papers

NM_000053.4

p.I1032S

c.3095T>G

2 papers

NM_000053.4

p.I1032T

c.3095T>C

1 paper

NM_000053.4

p.G1030V

c.3089G>T

15 papers

NM_000053.4

p.G1030D

c.3089G>A

1 paper

NM_000053.4

p.G1030C

c.3088G>T

1 paper

NM_000053.4

p.T1029insFs

c.3087dupT

4 papers

NM_000053.4

p.G1030S

c.3088G>A