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.K1013K

c.3039G>A

Surrounding Variants

1 paper

NM_000053.4

p.K1013N

c.3039G>T

2 papers

NM_000053.4

p.K1013fs

c.3037_3038fs

1 paper

NM_000053.4

p.K1013N

c.3039G>C

4 papers

NM_000053.4

p.P1014L

c.3041C>T

1 paper

NM_000053.4

p.P1014R

c.3041C>G

3 papers

NM_000053.4

p.G1012insFs

c.3036dupC

3 papers

NM_000053.4

p.G1012V

c.3035G>T

1 paper

NM_000053.4

p.L1015L

c.3043C>T

1 paper

NM_000053.4

p.L1015M

c.3043C>A

8 papers

NM_000053.4

p.L1015P

c.3044T>C

1 paper

NM_000053.4

p.P1014del1

c.3040_3042delGGG

2 papers

NM_000053.4

p.G1012R

c.3034G>C