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.H462Q

c.1386C>G

Surrounding Variants

1 paper

NM_000053.4

p.H462Q

c.1386C>A

1 paper

NM_000053.4

p.H462fs

c.1384_1385fs

1 paper

NM_000053.4

p.P461S

c.1381C>T

1 paper

NM_000053.4

p.R465G

c.1393A>G

1 paper

NM_000053.4

p.R465R

c.1395G>A

2 papers

NM_000053.4

p.L466V

c.1396C>G

2 papers

NM_000053.4

p.P467S

c.1399C>T

1 paper

NM_000053.4

p.E458*

c.1372G>T

1 paper

NM_000053.4

p.E458Q

c.1372G>C

1 paper

NM_000053.4

p.P467P

c.1401T>G

2 papers

NM_000053.4

p.H462_P467delFs

c.1384_1400del17

1 paper

NM_000053.4

p.A468T

c.1402G>A