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.K1077E

c.3229A>G

Surrounding Variants

5 papers

NM_000053.4

p.T1076I

c.3227C>T

NM_001330579.2

p.T992I

c.2975C>T

1 paper

NM_000053.4

p.K1077K

c.3231A>G

1 paper

NM_000053.4

p.Y1078H

c.3232T>C

1 paper

NM_001005918.3

p.V868delFs

c.2604delG

1 paper

NM_000053.4

p.Y1078C

c.3233A>G

2 papers

NM_000053.4

p.V1075A

c.3224T>C

1 paper

NM_000053.4

p.C1079G

c.3235T>G

8 papers

NM_000053.4

p.C1079F

c.3236G>T

2 papers

NM_000053.4

p.C1079Y

c.3236G>A

1 paper

NM_000053.4

p.K1077_C1079insFs

c.3229_3236dup8

1 paper

NM_000053.4

p.C1079C

c.3237T>C

4 papers

NM_000053.4

p.A1074V

c.3221C>T