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.L605L

c.1815T>G

Surrounding Variants

7 papers

NM_000053.4

p.V606G

c.1817T>G

1 paper

NM_000053.4

p.A604D

c.1811C>A

9 papers

NM_000053.4

p.A604P

c.1810G>C

1 paper

NM_000053.4

p.K607R

c.1820A>G

1 paper

NM_000053.4

p.K607T

c.1820A>C

3 papers

NM_000053.4

p.K607insFs

c.1820dupA

1 paper

NM_000053.4

p.F608fs

c.1822_1823fs

1 paper

NM_000053.4

p.S602N

c.1805G>A

1 paper

NM_000053.4

p.F608del1

c.1822_1823delAAA

1 paper

NM_000053.4

p.S602fs

c.1804_1805fs

2 papers

NM_000053.4

p.F608_D609del1

c.1823_1825delCAA

5 papers

NM_000053.4

p.T601delFs

c.1803delG