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

91 papers

NM_000053.4

p.T935M

c.2804C>T

Surrounding Variants

1 paper

NM_000053.4

p.T935T

c.2805G>C

1 paper

NM_000053.4

p.T935T

c.2805G>A

3 papers

NM_000053.4

p.L936V

c.2806T>G

21 papers

NM_000053.4

p.L936*

c.2807T>A

1 paper

NM_000053.4

p.L936F

c.2808G>T

6 papers

NM_000053.4

p.V937fs

c.2809_2810fs

1 paper

NM_000053.4

p.L936del1

c.2806_2808delCAA

1 paper

NM_000053.4

p.V937G

c.2810T>G

1 paper

NM_000053.4

p.V937E

c.2810T>A

1 paper

NM_000053.4

p.V937fs

c.2809_2810fs

1 paper

NM_000053.4

p.V937V

c.2811G>A

23 papers

NM_000053.4

p.V937delFs

c.2810delA