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.L227delFs

c.680delA

Surrounding Variants

2 papers

NM_000053.4

p.L227fs

c.679_680fs

1 paper

NM_000053.4

p.Q228*

c.682C>T

4 papers

NM_000053.4

p.R226delFs

c.678delC

1 paper

NM_000053.4

p.Q228R

c.683A>G

1 paper

NM_000053.4

p.L227fs

c.679_680fs

4 papers

NM_000053.4

p.R226Q

c.677G>A

3 papers

NM_000053.4

p.S229insFs

c.685_686insA

7 papers

NM_000053.4

p.R226W

c.676C>T

1 paper

NM_000053.4

p.S229S

c.687C>T

1 paper

NM_000053.4

p.E225K

c.673G>A

1 paper

NM_000053.4

p.T230T

c.690T>G

1 paper

NM_000053.4

p.T230T

c.690T>C