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.R1118R

c.3354C>G

Surrounding Variants

2 papers

NM_000053.4

p.E1117_R1118delFs

c.3350_3353del4

1 paper

NM_000053.4

p.R1118H

c.3353G>A

1 paper

NM_001330578.2

p.P1041S

c.3121C>T

1 paper

NM_000053.4

p.P1119H

c.3356C>A

1 paper

NM_000053.4

p.L1120V

c.3358T>G

1 paper

NM_000053.4

p.L1120L

c.3358T>C

1 paper

NM_000053.4

p.E1117G

c.3350A>G

1 paper

NM_000053.4

p.E1117A

c.3350A>C

1 paper

NM_000053.4

p.L1120S

c.3359T>C

6 papers

NM_000053.4

p.L1120*

c.3359T>A

1 paper

NM_000053.4

p.S1116insFs

c.3348dupT

1 paper

NM_000053.4

p.A1122T

c.3364G>A