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.I774ins4

c.2320_2321ins12

Surrounding Variants

1 paper

NM_000053.4

p.I774V

c.2320A>G

1 paper

NM_000053.4

p.I774I

c.2322T>C

1 paper

NM_000053.4

p.A775S

c.2323G>T

1 paper

NM_000053.4

p.F763_I774del12

c.2287_2321del36

2 papers

NM_000053.4

p.V772_F773ins3

c.2316_2317ins9

2 papers

NM_000053.4

p.A775V

c.2324C>T

1 paper

NM_000053.4

p.A775G

c.2324C>G

1 paper

NM_000053.4

p.V772E

c.2315T>A

1 paper

NM_000053.4

p.A775A

c.2325C>T

1 paper

NM_000053.4

p.V772M

c.2314G>A

1 paper

NM_000053.4

p.L776fs

c.2326_2327fs

1 paper

NM_000053.4

p.L776L

c.2326C>T