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.V1036L

c.3106G>C

Surrounding Variants

1 paper

NM_000053.4

p.V1036F

c.3106G>T

1 paper

NM_000053.4

p.G1035insFs

c.3105dupC

16 papers

NM_000053.4

p.V1036I

c.3106G>A

2 papers

NM_000053.4

p.G1035G

c.3105C>T

23 papers

NM_000053.4

p.G1035V

c.3104G>T

1 paper

NM_000053.4

p.G1035D

c.3104G>A

1 paper

NM_000053.4

p.P1037L

c.3110C>T

2 papers

NM_000053.4

p.H1034R

c.3101A>G

1 paper

NM_000053.4

p.H1034P

c.3101A>C

3 papers

NM_000053.4

p.R1038G

c.3112A>G

4 papers

NM_000053.4

p.P1037delFs

c.3111delG

2 papers

NM_000053.4

p.R1038K

c.3113G>A