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.D1164A

c.3491A>C

Surrounding Variants

6 papers

NM_000053.4

p.D1164N

c.3490G>A

1 paper

NM_000053.4

p.S1163S

c.3489C>T

1 paper

NM_000053.4

p.S1163R

c.3489C>G

1 paper

NM_001005918.3

p.V958delFs

c.2874delG

3 papers

NM_000053.4

p.S1162F

c.3485C>T

6 papers

NM_000053.4

p.G1158_I1161delFs

c.3472_3482del11

1 paper

NM_001330578.2

p.D1089N

c.3265G>A

1 paper

NM_000053.4

p.I1161T

c.3482T>C

1 paper

NM_000053.4

p.D1167A

c.3500A>C

1 paper

NM_000053.4

p.D1167D

c.3501C>T

4 papers

NM_000053.4

p.A1168S

c.3502G>T

3 papers

NM_000053.4

p.A1168P

c.3502G>C