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

2 papers

NM_000053.4

p.L735_S744delFs

c.2203_2231del29

Surrounding Variants

6 papers

NM_000053.4

p.S744F

c.2231C>T

1 paper

NM_000053.4

p.L745V

c.2233C>G

1 paper

NM_000053.4

p.L745M

c.2233C>A

1 paper

NM_000053.4

p.L745R

c.2234T>G

19 papers

NM_000053.4

p.S744P

c.2230T>C

4 papers

NM_000053.4

p.L745P

c.2234T>C

1 paper

NM_000053.4

p.S744T

c.2230T>A

2 papers

NM_000053.4

p.Y743fs

c.2227_2228fs

1 paper

NM_000053.4

p.L745L

c.2235G>T

1 paper

NM_000053.4

p.V746I

c.2236G>A

3 papers

NM_000053.4

p.Y743C

c.2228A>G

3 papers

NM_000053.4

p.Y743delFs

c.2227delA