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.Y1090_C1091ins0

c.3269_3271dupACT

Surrounding Variants

2 papers

NM_000053.4

p.C1091Y

c.3272G>A

2 papers

NM_000053.4

p.C1091R

c.3271T>C

3 papers

NM_000053.4

p.T1092P

c.3274A>C

1 paper

NM_000053.4

p.Y1090_C1091del1

c.3270_3272delCAG

2 papers

NM_000053.4

p.T1092M

c.3275C>T

1 paper

NM_000053.4

p.L1088_G1089del2

c.3262_3266del6

1 paper

NM_000053.4

p.T1092T

c.3276G>A

5 papers

NM_000053.4

p.G1089V

c.3266G>T

2 papers

NM_000053.4

p.G1089E

c.3266G>A

1 paper

NM_000053.4

p.D1093G

c.3278A>G

1 paper

NM_000053.4

p.G1089R

c.3265G>C

2 papers

NM_000053.4

p.G1089R

c.3265G>A