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

3 papers

NM_000053.4

p.V1297D

c.3890T>A

Surrounding Variants

25 papers

NM_000053.4

p.V1297I

c.3889G>A

1 paper

NM_000053.4

p.V1297V

c.3891C>T

3 papers

NM_000053.4

p.V1298F

c.3892G>T

2 papers

NM_000053.4

p.V1298L

c.3892G>C

5 papers

NM_000053.4

p.V1298I

c.3892G>A

4 papers

NM_000053.4

p.D1296D

c.3888C>T

1 paper

NM_000053.4

p.D1296V

c.3887A>T

1 paper

NM_001406520.1

p.A1247_D1248insFs

c.3741_3742dupCG

17 papers

NM_000053.4

p.D1296N

c.3886G>A

1 paper

NM_000053.4

p.V1298V

c.3894C>T

14 papers

NM_000053.4

p.L1299F

c.3895C>T

1 paper

NM_000053.4

p.A1295A

c.3885C>T