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

48 papers

NM_000053.4

p.V456L

c.1366G>T

Surrounding Variants

58 papers

NM_000053.4

p.V456L

c.1366G>C

1 paper

NM_000053.4

p.V456V

c.1368G>C

8 papers

NM_000053.4

p.Q457*

c.1369C>T

1 paper

NM_000053.4

p.T454T

c.1362A>G

1 paper

NM_000053.4

p.E458*

c.1372G>T

1 paper

NM_000053.4

p.E458Q

c.1372G>C

1 paper

NM_000053.4

p.P453A

c.1357C>G

3 papers

NM_000053.4

p.T448_T452del5

c.1342_1355del15

1 paper

NM_000053.4

p.P461S

c.1381C>T

1 paper

NM_000053.4

p.D450delFs

c.1349delT

1 paper

NM_000053.4

p.H462fs

c.1384_1385fs

1 paper

NM_000053.4

p.H462Q

c.1386C>G