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

2 papers

NM_000053.4

p.F243_N244insFs

c.729_730insTT

Surrounding Variants

1 paper

NM_000053.4

p.N244I

c.731A>T

1 paper

NM_000053.4

p.N242I

c.725A>T

1 paper

NM_000053.4

p.Q241R

c.722A>G

2 papers

NM_000053.4

p.Q241*

c.721C>T

4 papers

NM_000053.4

p.E247G

c.740A>G

1 paper

NM_000053.4

p.N240I

c.719A>T

1 paper

NM_000053.4

p.L249L

c.745T>C

2 papers

NM_000053.4

p.L249L

c.747G>A

1 paper

NM_000053.4

p.L249delFs

c.746delA

1 paper

NM_000053.4

p.S238P

c.712T>C

10 papers

NM_000053.4

p.G250R

c.748G>C

9 papers

NM_000053.4

p.G250R

c.748G>A