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.S1314T

c.3940T>A

Surrounding Variants

1 paper

NM_000053.4

p.L1313R

c.3938T>G

1 paper

NM_000053.4

p.L1313P

c.3938T>C

1 paper

NM_000053.4

p.L1313fs

c.3937_3938fs

2 papers

NM_000053.4

p.L1313V

c.3937C>G

1 paper

NM_000053.4

p.K1315R

c.3944A>G

3 papers

NM_000053.4

p.I1311T

c.3932T>C

4 papers

NM_000053.4

p.I1311N

c.3932T>A

1 paper

NM_000053.4

p.T1317A

c.3949A>G

1 paper

NM_000053.4

p.I1311V

c.3931A>G

1 paper

NM_000053.4

p.R1316delFs

c.3948delC

2 papers

NM_000053.4

p.S1310R

c.3930C>G

2 papers

NM_000053.4

p.S1310R

c.3930C>A