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

4 papers

NM_000053.4

p.A1263delFs

c.3787delC

Surrounding Variants

1 paper

NM_000053.4

p.A1263P

c.3787G>C

1 paper

NM_000053.4

p.A1263T

c.3787G>A

1 paper

NM_000053.4

p.A1263fs

c.3787_3788fs

1 paper

NM_000053.4

p.V1262V

c.3786C>T

2 papers

NM_000053.4

p.M1264T

c.3791T>C

1 paper

NM_001330578.2

p.V1184A

c.3551T>C

20 papers

NM_000053.4

p.V1262F

c.3784G>T

2 papers

NM_000053.4

p.V1265L

c.3793G>T

2 papers

NM_000053.4

p.V1265L

c.3793G>C

2 papers

NM_000053.4

p.V1265M

c.3793G>A

1 paper

NM_000053.4

p.K1261K

c.3783A>G

1 paper

NM_000053.4

p.V1265G

c.3794T>G