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.T737I

c.2210C>T

Surrounding Variants

6 papers

NM_000053.4

p.T737R

c.2210C>G

1 paper

NM_000053.4

p.T737K

c.2210C>A

1 paper

NM_000053.4

p.T737S

c.2209A>T

3 papers

NM_000053.4

p.S738delins

c.2212_2213delinsCA

2 papers

NM_000053.4

p.A736V

c.2207C>T

1 paper

NM_000053.4

p.S738delFs

c.2212_2213delCT

2 papers

NM_000053.4

p.I739V

c.2215A>G

3 papers

NM_000053.4

p.L735R

c.2204T>G

1 paper

NM_000053.4

p.L732_I739del0

c.2196_2216del21

1 paper

NM_000053.4

p.L735fs

c.2203_2204fs

1 paper

NM_000053.4

p.A740V

c.2219C>T

3 papers

NM_000053.4

p.V734F

c.2200G>T