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

16 papers

NM_000053.4

p.L1015L

c.3045G>A

Surrounding Variants

1 paper

NM_001005918.3

p.L808_E809insFs

c.2424_2425insA

1 paper

NM_001330578.2

p.L937delFs

c.2810delA

8 papers

NM_000053.4

p.L1015P

c.3044T>C

1 paper

NM_000053.4

p.P1014del1

c.3040_3042delGGG

1 paper

NM_000053.4

p.L1015L

c.3043C>T

1 paper

NM_000053.4

p.L1015M

c.3043C>A

4 papers

NM_000053.4

p.P1014L

c.3041C>T

1 paper

NM_000053.4

p.P1014R

c.3041C>G

1 paper

NM_000053.4

p.M1017I

c.3051G>T

1 paper

NM_000053.4

p.K1013N

c.3039G>T

2 papers

NM_000053.4

p.K1013fs

c.3037_3038fs

1 paper

NM_000053.4

p.M1017I

c.3051G>C