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.F771L

c.2313T>A

Surrounding Variants

2 papers

NM_000053.4

p.F771L

c.2313T>G

3 papers

NM_000053.4

p.F764_F771del0

c.2292_2312del21

1 paper

NM_000053.4

p.F771Y

c.2312T>A

1 paper

NM_000053.4

p.V772M

c.2314G>A

1 paper

NM_000053.4

p.F771V

c.2311T>G

2 papers

NM_000053.4

p.F771L

c.2311T>C

1 paper

NM_000053.4

p.V772E

c.2315T>A

1 paper

NM_000053.4

p.P767_L770del0

c.2301_2309del9

2 papers

NM_000053.4

p.V772_F773ins3

c.2316_2317ins9

33 papers

NM_000053.4

p.L770L

c.2310C>G

2 papers

NM_000053.4

p.L770P

c.2309T>C

6 papers

NM_000053.4

p.L770F

c.2308C>T