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

3 papers

NM_000053.4

p.G1012V

c.3035G>T

Surrounding Variants

2 papers

NM_000053.4

p.G1012R

c.3034G>C

1 paper

NM_000053.4

p.G1011G

c.3033A>T

1 paper

NM_000053.4

p.G1011insFs

c.3031_3032insG

3 papers

NM_000053.4

p.G1012insFs

c.3036dupC

1 paper

NM_000053.4

p.I1009_G1011del0

c.3027_3032del6

3 papers

NM_000053.4

p.G1011*

c.3031G>T

1 paper

NM_000053.4

p.K1013N

c.3039G>T

7 papers

NM_000053.4

p.G1011insFs

c.3031_3032insC

2 papers

NM_000053.4

p.K1013fs

c.3037_3038fs

1 paper

NM_000053.4

p.G1011insFs

c.3031_3032insA

1 paper

NM_000053.4

p.K1013N

c.3039G>C

1 paper

NM_000053.4

p.K1013K

c.3039G>A