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_001005918.3

p.H919D

c.2755C>G

NM_000053.4

p.H1126D

c.3376C>G

Surrounding Variants

2 papers

NM_000053.4

p.H1126delFs

c.3376delG

2 papers

NM_000053.4

p.S1125_H1126Fs

c.3373_3377delinsTCTFs

3 papers

NM_000053.4

p.H1126fs

c.3376_3377fs

1 paper

NM_000053.4

p.L1127V

c.3379C>G

2 papers

NM_000053.4

p.H1126delFs

c.3377_3378delGT

1 paper

NM_000053.4

p.S1125G

c.3373A>G

1 paper

NM_000053.4

p.L1127Q

c.3380T>A

1 paper

NM_000053.4

p.L1127L

c.3381G>A

1 paper

NM_000053.4

p.A1124V

c.3371C>T

1 paper

NM_000053.4

p.N1128Y

c.3382A>T

1 paper

NM_000053.4

p.P1123fs

c.3367_3368fs

1 paper

NM_000053.4

p.P1123P

c.3369G>A