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.R725T

c.2174G>C

Surrounding Variants

1 paper

NM_000053.4

p.R725M

c.2174G>T

1 paper

NM_000053.4

p.R725K

c.2174G>A

1 paper

NM_000053.4

p.R725S

c.2175G>T

1 paper

NM_000053.4

p.R725S

c.2175G>C

3 papers

NM_000053.4

p.R725R

c.2175G>A

2 papers

NM_000053.4

p.R725W

c.2173A>T

1 paper

NM_000053.4

p.H724_R725insFs

c.2172_2173insT

1 paper

NM_000053.4

p.Y715_R723del0

c.2143_2169del27

1 paper

NM_000053.4

p.H724fs

c.2170_2171fs

2 papers

NM_000053.4

p.A727P

c.2179G>C

1 paper

NM_000053.4

p.R723S

c.2169A>T

1 paper

NM_000053.4

p.R723S

c.2169A>C