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.K1261K

c.3783A>G

Surrounding Variants

20 papers

NM_000053.4

p.V1262F

c.3784G>T

1 paper

NM_001330578.2

p.V1184A

c.3551T>C

1 paper

NM_000053.4

p.V1262V

c.3786C>T

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

4 papers

NM_000053.4

p.A1263delFs

c.3787delC

1 paper

NM_000053.4

p.K1260Q

c.3778A>C

2 papers

NM_000053.4

p.G1259V

c.3776G>T

1 paper

NM_000053.4

p.K1258_G1259insFs

c.3772_3775dup4

1 paper

NM_000053.4

p.G1259E

c.3776G>A

2 papers

NM_000053.4

p.M1264T

c.3791T>C