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

10 papers

NM_000053.4

p.Y741*

c.2223T>A

Surrounding Variants

10 papers

NM_000053.4

p.Y741*

c.2223T>G

1 paper

NM_000053.4

p.V742fs

c.2224_2225fs

3 papers

NM_000053.4

p.V742insFs

c.2224_2225insA

2 papers

NM_000053.4

p.V742I

c.2224G>A

5 papers

NM_000053.4

p.Y741C

c.2222A>G

2 papers

NM_000053.4

p.Y741N

c.2221T>A

1 paper

NM_000053.4

p.A740V

c.2219C>T

3 papers

NM_000053.4

p.Y743C

c.2228A>G

3 papers

NM_000053.4

p.Y743delFs

c.2227delA

2 papers

NM_000053.4

p.Y743fs

c.2227_2228fs

1 paper

NM_000053.4

p.L732_I739del0

c.2196_2216del21

19 papers

NM_000053.4

p.S744P

c.2230T>C