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.C271insFs

c.812dupG

Surrounding Variants

2 papers

NM_000053.4

p.C271C

c.813C>T

74 papers

NM_000053.4

p.C271*

c.813C>A

1 paper

NM_000053.4

p.C268_S270del3

c.802_809del9

1 paper

NM_000053.4

p.C271S

c.812G>C

3 papers

NM_000053.4

p.V272I

c.814G>A

2 papers

NM_000053.4

p.C271delFs

c.813delG

3 papers

NM_000053.4

p.C268_C271del4

c.802_812del12

1 paper

NM_000053.4

p.C271R

c.811T>C

1 paper

NM_000053.4

p.C271S

c.811T>A

1 paper

NM_000053.4

p.K269_S270delFs

c.807_810del4

1 paper

NM_000053.4

p.C271fs

c.811_812fs

2 papers

NM_000053.4

p.V272_L273insFs

c.816_817insT