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.A1203T

c.3607G>A

Surrounding Variants

1 paper

NM_000053.4

p.A1203P

c.3607G>C

5 papers

NM_000053.4

p.A1202G

c.3605C>G

1 paper

NM_000053.4

p.A1202D

c.3605C>A

2 papers

NM_000053.4

p.L1204L

c.3610C>T

2 papers

NM_000053.4

p.A1205S

c.3613G>T

1 paper

NM_000053.4

p.A1205T

c.3613G>A

1 paper

NM_000053.4

p.E1201K

c.3601G>A

1 paper

NM_000053.4

p.A1205A

c.3615T>C

1 paper

NM_000053.4

p.Q1200P

c.3599A>C

1 paper

NM_000053.4

p.V1206M

c.3616G>A

3 papers

NM_000053.4

p.Q1200*

c.3598C>T

1 paper

NM_000053.4

p.V1206insFs

c.3617_3618insA