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.E1254D

c.3762G>C

Surrounding Variants

4 papers

NM_000053.4

p.L1255I

c.3763C>A

1 paper

NM_001005918.3

p.E1047V

c.3140A>T

2 papers

NM_001406546.1

p.E1027Q

c.3079G>C

NM_000053.4

p.E1254Q

c.3760G>C

1 paper

NM_000053.4

p.E1254K

c.3760G>A

1 paper

NM_000053.4

p.L1255_Q1256insFs

c.3765_3766insAC

4 papers

NM_000053.4

p.Q1256fs

c.3766_3767fs

1 paper

NM_000053.4

p.Q1256*

c.3766C>T

1 paper

NM_000053.4

p.Q1253R

c.3758A>G

8 papers

NM_000053.4

p.Q1256R

c.3767A>G

3 papers

NM_000053.4

p.Q1256insFs

c.3767_3768insCA

1 paper

NM_000053.4

p.Q1256H

c.3768G>T

1 paper

NM_000053.4

p.Q1256fs

c.3766_3767fs