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.H1172H

c.3516C>T

Surrounding Variants

34 papers

NM_000053.4

p.E1173K

c.3517G>A

1 paper

NM_000053.4

p.H1172R

c.3515A>G

1 paper

NM_000053.4

p.H1172Y

c.3514C>T

3 papers

NM_000053.4

p.E1173G

c.3518A>G

1 paper

NM_000053.4

p.D1171A

c.3512A>C

1 paper

NM_000053.4

p.T1170delFs

c.3509delG

1 paper

NM_000053.4

p.K1175R

c.3524A>G

1 paper

NM_001330578.2

p.T1092P

c.3274A>C

1 paper

NM_000053.4

p.T1170fs

c.3508_3509fs

1 paper

NM_000053.4

p.K1175N

c.3525A>T

1 paper

NM_000053.4

p.K1175N

c.3525A>C

3 papers

NM_000053.4

p.M1169T

c.3506T>C