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.V1234_G1235delFs

c.3700_3704del5

Surrounding Variants

1 paper

NM_000053.4

p.G1235delFs

c.3704delC

6 papers

NM_000053.4

p.G1235D

c.3704G>A

1 paper

NM_001005918.3

p.G1028_I1029Fs

c.3083_3085delinsGFs

1 paper

NM_000053.4

p.G1235R

c.3703G>C

1 paper

NM_000053.4

p.V1234fs

c.3700_3701fs

11 papers

NM_000053.4

p.V1234delFs

c.3700delC

2 papers

NM_000053.4

p.V1234fs

c.3700_3701fs

1 paper

NM_000053.4

p.V1234F

c.3700G>T

2 papers

NM_000053.4

p.Q1233_V1234Splc

c.3700-1G>A

1 paper

NM_000053.4

p.Q1233_V1234Splc

c.3700-2A>T

1 paper

NM_000053.4

p.K1238E

c.3712A>G

1 paper

NM_000053.4

p.Q1233_V1234Splc

c.3700-3T>G