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.L1159*

c.3476T>A

Surrounding Variants

1 paper

NM_000053.4

p.L1159*

c.3476T>G

1 paper

NM_000053.4

p.L1159S

c.3476T>C

2 papers

NM_000053.4

p.G1158fs

c.3472_3473fs

1 paper

NM_000053.4

p.T1160A

c.3478A>G

2 papers

NM_000053.4

p.G1158V

c.3473G>T

1 paper

NM_000053.4

p.G1158R

c.3472G>C

1 paper

NM_000053.4

p.N1157N

c.3471C>T

1 paper

NM_000053.4

p.I1161T

c.3482T>C

6 papers

NM_000053.4

p.G1158_I1161delFs

c.3472_3482del11

8 papers

NM_000053.4

p.R1156H

c.3467G>A

3 papers

NM_000053.4

p.S1162F

c.3485C>T

1 paper

NM_000053.4

p.R1156C

c.3466C>T