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.P955_N956Splc

c.2866-6T>G

Surrounding Variants

2 papers

NM_000053.4

p.P955_N956Splc

c.2866-7T>C

1 paper

NM_000053.4

p.P955_N956Splc

c.2866-3C>G

5 papers

NM_000053.4

p.P955_N956Splc

c.2866-2A>G

4 papers

NM_000053.4

p.P955_N956Splc

c.2866-2A>C

12 papers

NM_000053.4

p.P955_N956Splc

c.2866-13G>C

1 paper

NM_000053.4

p.P955_N956Splc

c.2866-14T>G

2 papers

NM_001005918.3

p.N751fs

c.2251_2252fs

NM_000053.4

p.N958fs

c.2872_2873fs

39 papers

NM_000053.4

p.P957delFs

c.2871delG

NM_001005918.3

p.P750delFs

c.2250delG

4 papers

NM_000053.4

p.N958fs

c.2872_2873fs

3 papers

NM_000053.4

p.N958K

c.2874C>A

13 papers

NM_000053.4

p.N958delFs

c.2874delG

1 paper

NM_000053.4

p.S962F

c.2885C>T