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.V1097A

c.3290T>C

Surrounding Variants

1 paper

NM_000053.4

p.V1097V

c.3291G>T

1 paper

NM_000053.4

p.V1097V

c.3291G>C

1 paper

NM_000053.4

p.V1097V

c.3291G>A

1 paper

NM_000053.4

p.V1097_P1098delins

c.3291_3292delinsTT

5 papers

NM_000053.4

p.P1098R

c.3293C>G

1 paper

NM_000053.4

p.P1098Q

c.3293C>A

1 paper

NM_000053.4

p.A1096E

c.3287C>A

1 paper

NM_000053.4

p.A1096T

c.3286G>A

15 papers

NM_000053.4

p.G1099S

c.3295G>A

1 paper

NM_000053.4

p.Q1095Q

c.3285G>A

1 paper

NM_000053.4

p.G1099D

c.3296G>A

7 papers

NM_000053.4

p.Q1095P

c.3284A>C