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.N1270I

c.3809A>T

Surrounding Variants

163 papers

NM_000053.4

p.N1270S

c.3809A>G

4 papers

NM_000053.4

p.N1270T

c.3809A>C

1 paper

NM_000053.4

p.N1270Y

c.3808A>T

1 paper

NM_000053.4

p.N1270D

c.3808A>G

1 paper

NM_000053.4

p.D1271Y

c.3811G>T

4 papers

NM_000053.4

p.D1271N

c.3811G>A

1 paper

NM_000053.4

p.S1272P

c.3814T>C

4 papers

NM_000053.4

p.V1265_G1268delFs

c.3794_3803del10

1 paper

NM_001005918.3

p.G1061E

c.3182G>A

1 paper

NM_000053.4

p.S1272C

c.3815C>G

1 paper

NM_000053.4

p.S1272Y

c.3815C>A

4 papers

NM_000053.4

p.G1268R

c.3802G>C