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.L1154P

c.3461T>C

Surrounding Variants

1 paper

NM_000053.4

p.L1154R

c.3461T>G

1 paper

NM_000053.4

p.L1154L

c.3462G>A

11 papers

NM_000053.4

p.W1153C

c.3459G>T

11 papers

NM_000053.4

p.W1153C

c.3459G>C

1 paper

NM_000053.4

p.W1153*

c.3458G>A

3 papers

NM_000053.4

p.W1153R

c.3457T>C

3 papers

NM_000053.4

p.W1153R

c.3457T>A

1 paper

NM_000053.4

p.E1152D

c.3456G>T

1 paper

NM_000053.4

p.E1152D

c.3456G>C

1 paper

NM_000053.4

p.R1156C

c.3466C>T

1 paper

NM_000053.4

p.E1152_R1155del4

c.3454_3464del12

8 papers

NM_000053.4

p.R1156H

c.3467G>A