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

8 papers

NM_000053.4

p.T974M

c.2921C>T

Surrounding Variants

3 papers

NM_000053.4

p.T974T

c.2922G>A

1 paper

NM_001005918.3

p.T767insFs

c.2299_2300insC

1 paper

NM_001005918.3

p.Q766_T767insFs

c.2298_2299insC

1 paper

NM_000053.4

p.Q973Q

c.2919G>A

2 papers

NM_000053.4

p.S975F

c.2924C>T

37 papers

NM_000053.4

p.S975Y

c.2924C>A

NM_001005918.3

p.S768Y

c.2303C>A

1 paper

NM_001005918.3

p.S768insFs

c.2304dupC

1 paper

NM_000053.4

p.I976T

c.2927T>C

2 papers

NM_000053.4

p.A971A

c.2913T>A

1 paper

NM_000053.4

p.T977A

c.2929A>G

80 papers

NM_000053.4

p.T977M

c.2930C>T

4 papers

NM_000053.4

p.A971V

c.2912C>T