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.V387V

c.1161G>A

Surrounding Variants

1 paper

NM_000053.4

p.V387E

c.1160T>A

5 papers

NM_000053.4

p.Q388*

c.1162C>T

2 papers

NM_000053.4

p.G386G

c.1158G>T

2 papers

NM_000053.4

p.G386V

c.1157G>T

1 paper

NM_000053.4

p.E385_G386Fs

c.1155_1157delinsCFs

1 paper

NM_000053.4

p.Q389R

c.1166A>G

1 paper

NM_000053.4

p.E385D

c.1155A>T

1 paper

NM_000053.4

p.E385D

c.1155A>C

3 papers

NM_000053.4

p.I390L

c.1168A>T

17 papers

NM_000053.4

p.I390V

c.1168A>G

1 paper

NM_000053.4

p.I390L

c.1168A>C

1 paper

NM_000053.4

p.E385*

c.1153G>T