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

5 papers

NM_000053.4

p.V149M

c.445G>A

Surrounding Variants

1 paper

NM_000053.4

p.V149L

c.445G>T

1 paper

NM_000053.4

p.V149L

c.445G>C

2 papers

NM_000053.4

p.V149V

c.447G>C

1 paper

NM_000053.4

p.R148Q

c.443G>A

1 paper

NM_000053.4

p.E150Q

c.448G>C

1 paper

NM_000053.4

p.E150fs

c.448_449fs

13 papers

NM_000053.4

p.R148W

c.442C>T

1 paper

NM_000053.4

p.L147L

c.441C>G

1 paper

NM_000053.4

p.E142_L147del0

c.426_440del15

2 papers

NM_000053.4

p.E150G

c.449A>G

1 paper

NM_000053.4

p.G151D

c.452G>A

1 paper

NM_000053.4

p.V149_G151Fs

c.447_452delinsCFs