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

625 papers

NM_000053.4

p.H1069Q

c.3207C>A

Surrounding Variants

1 paper

NM_000053.4

p.H1069H

c.3207C>T

611 papers

NM_000053.4

p.H1069Q

c.3207C>G

1 paper

NM_000053.4

p.P1070S

c.3208C>T

1 paper

NM_000053.4

p.P1070T

c.3208C>A

2 papers

NM_000053.4

p.H1069Y

c.3205C>T

1 paper

NM_001330578.2

p.P992L

c.2975C>T

5 papers

NM_000053.4

p.P1070R

c.3209C>G

1 paper

NM_000053.4

p.H1069N

c.3205C>A

1 paper

NM_000053.4

p.P1070P

c.3210C>T

1 paper

NM_000053.4

p.L1071V

c.3211T>G

1 paper

NM_000053.4

p.L1071L

c.3211T>C

2 papers

NM_000053.4

p.E1068G

c.3203A>G