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

3 papers

NM_000053.4

p.R1224Q

c.3671G>A

Surrounding Variants

3 papers

NM_000053.4

p.R1224L

c.3671G>T

2 papers

NM_000053.4

p.R1224fs

c.3670_3671fs

1 paper

NM_000053.4

p.R1224W

c.3670C>T

1 paper

NM_000053.4

p.K1225fs

c.3673_3674fs

1 paper

NM_000053.4

p.N1223insFs

c.3668_3669insG

1 paper

NM_000053.4

p.R1224_K1225Fs

c.3672_3674delinsTTCCFs

2 papers

NM_000053.4

p.T1226A

c.3676A>G

1 paper

NM_000053.4

p.T1226P

c.3676A>C

1 paper

NM_000053.4

p.T1226I

c.3677C>T

4 papers

NM_000053.4

p.D1222V

c.3665A>T

1 paper

NM_000053.4

p.D1222insFs

c.3664_3665insG

1 paper

NM_000053.4

p.D1222delFs

c.3664delC