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

5 papers

NM_000053.4

p.Y719C

c.2156A>G

Surrounding Variants

5 papers

NM_000053.4

p.Y719*

c.2157C>G

6 papers

NM_000053.4

p.Y719*

c.2157C>A

1 paper

NM_000053.4

p.K720fs

c.2158_2159fs

2 papers

NM_000053.4

p.A718P

c.2152G>C

5 papers

NM_000053.4

p.S721P

c.2161T>C

3 papers

NM_000053.4

p.K720delFs

c.2160delT

3 papers

NM_000053.4

p.Q717*

c.2149C>T

1 paper

NM_000053.4

p.V716V

c.2148T>G

1 paper

NM_000053.4

p.V716V

c.2148T>A

2 papers

NM_000053.4

p.L722V

c.2164C>G

2 papers

NM_000053.4

p.L722insFs

c.2164_2165insT

4 papers

NM_000053.4

p.L722Q

c.2165T>A