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.K910_A911Splc

c.2730+1G>T

Surrounding Variants

4 papers

NM_000053.4

p.K910_A911Splc

c.2730+1G>A

2 papers

NM_000053.4

p.K910N

c.2730G>T

2 papers

NM_000053.4

p.K910N

c.2730G>C

2 papers

NM_000053.4

p.K910*

c.2728A>T

1 paper

NM_000053.4

p.S909L

c.2726C>T

6 papers

NM_000053.4

p.I899_M908del0

c.2697_2723del27

1 paper

NM_000053.4

p.Q907R

c.2720A>G

2 papers

NM_000053.4

p.A906P

c.2716G>C

1 paper

NM_000053.4

p.E905D

c.2715G>T

1 paper

NM_000053.4

p.E905D

c.2715G>C

1 paper

NM_000053.4

p.E905*

c.2713G>T

1 paper

NM_000053.4

p.E904E

c.2712A>G