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

2 papers

NM_000053.4

p.A399A

c.1197A>T

Surrounding Variants

1 paper

NM_000053.4

p.T400A

c.1198A>G

1 paper

NM_000053.4

p.A399S

c.1195G>T

1 paper

NM_000053.4

p.A399P

c.1195G>C

1 paper

NM_000053.4

p.A399T

c.1195G>A

2 papers

NM_000053.4

p.G397G

c.1191G>T

1 paper

NM_000053.4

p.E396G

c.1187A>G

6 papers

NM_000053.4

p.E396*

c.1186G>T

4 papers

NM_000053.4

p.E396Q

c.1186G>C

1 paper

NM_000053.4

p.E396K

c.1186G>A

1 paper

NM_000053.4

p.A395delFs

c.1184delG

2 papers

NM_000053.4

p.A395A

c.1185C>T

3 papers

NM_000053.4

p.N404fs

c.1210_1211fs