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.Q898R

c.2693A>G

Surrounding Variants

1 paper

NM_000053.4

p.Q898*

c.2692C>T

3 papers

NM_000053.4

p.I899F

c.2695A>T

2 papers

NM_000053.4

p.I899T

c.2696T>C

1 paper

NM_000053.4

p.V900_K901del1

c.2699_2701delTCA

2 papers

NM_000053.4

p.L902P

c.2705T>C

1 paper

NM_000053.4

p.Q898_L902del5

c.2692_2705del15

1 paper

NM_000053.4

p.D893D

c.2679C>T

1 paper

NM_000053.4

p.V890_D893del0

c.2670_2678del9

1 paper

NM_000053.4

p.V903A

c.2708T>C

1 paper

NM_000053.4

p.N892fs

c.2674_2675fs

1 paper

NM_000053.4

p.E904K

c.2710G>A

1 paper

NM_000053.4

p.E904E

c.2712A>G