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.A1135A

c.3405A>G

Surrounding Variants

11 papers

NM_000053.4

p.A1135fs

c.3403_3404fs

2 papers

NM_000053.4

p.A1135delFs

c.3404delG

3 papers

NM_000053.4

p.E1136K

c.3406G>A

3 papers

NM_000053.4

p.A1135T

c.3403G>A

88 papers

NM_000053.4

p.P1134delFs

c.3400delG

1 paper

NM_000053.4

p.S1132_P1134del0

c.3396_3401del6

12 papers

NM_000053.4

p.A1135fs

c.3403_3404fs

1 paper

NM_000053.4

p.P1134P

c.3402C>T

1 paper

NM_000053.4

p.P1134fs

c.3400_3401fs

1 paper

NM_000053.4

p.K1137Q

c.3409A>C

1 paper

NM_000053.4

p.P1134S

c.3400C>T

1 paper

NM_000053.4

p.P1134A

c.3400C>G