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.S986F

c.2957C>T

Surrounding Variants

1 paper

NM_000053.4

p.S986C

c.2957C>G

1 paper

NM_001330578.2

p.T899_S908del0

c.2697_2723del27

2 papers

NM_000053.4

p.C985C

c.2955C>T

1 paper

NM_000053.4

p.C985*

c.2955C>A

2 papers

NM_000053.4

p.L987P

c.2960T>C

1 paper

NM_001005918.3

p.C778F

c.2333G>T

2 papers

NM_000053.4

p.C985S

c.2954G>C

6 papers

NM_000053.4

p.C985Y

c.2954G>A

NM_001005918.3

p.C778Y

c.2333G>A

2 papers

NM_000053.4

p.C985S

c.2953T>A

7 papers

NM_000053.4

p.G988R

c.2962G>C

7 papers

NM_000053.4

p.G988R

c.2962G>A

2 papers

NM_000053.4

p.G988V

c.2963G>T