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.A208_I210del3

c.622_629del9

Surrounding Variants

1 paper

NM_000053.4

p.K211fs

c.631_632fs

1 paper

NM_000053.4

p.K211R

c.632A>G

1 paper

NM_000053.4

p.K211N

c.633G>T

1 paper

NM_000053.4

p.K211N

c.633G>C

1 paper

NM_000053.4

p.K211delFs

c.631_632delTT

1 paper

NM_000053.4

p.S212C

c.634A>T

2 papers

NM_000053.4

p.I210V

c.628A>G

1 paper

NM_000053.4

p.S212I

c.635G>T

1 paper

NM_000053.4

p.A209insFs

c.625_626insG

2 papers

NM_000053.4

p.K213I

c.638A>T

2 papers

NM_000053.4

p.A208V

c.623C>T

1 paper

NM_000053.4

p.V214M

c.640G>A