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

33 papers

NM_000053.4

p.A1003V

c.3008C>T

Surrounding Variants

1 paper

NM_000053.4

p.A1003E

c.3008C>A

2 papers

NM_000053.4

p.M996_A1003Fs

c.2986_3008delinsTATGTGGFs

1 paper

NM_000053.4

p.A1003P

c.3007G>C

50 papers

NM_000053.4

p.A1003T

c.3007G>A

20 papers

NM_000053.4

p.A1003A

c.3009G>A

4 papers

NM_000053.4

p.Q1004*

c.3010C>T

1 paper

NM_000053.4

p.A1002A

c.3006C>T

5 papers

NM_000053.4

p.Q1004P

c.3011A>C

1 paper

NM_000053.4

p.A1002_Q1004del0

c.3005_3010del6

1 paper

NM_000053.4

p.Q1004Q

c.3012G>A

1 paper

NM_000053.4

p.A1002T

c.3004G>A

1 paper

NM_000053.4

p.V1001V

c.3003G>T