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

8 papers

NM_000053.4

p.M769R

c.2306T>G

Surrounding Variants

2 papers

NM_000053.4

p.M769T

c.2306T>C

8 papers

NM_000053.4

p.M769I

c.2307G>T

15 papers

NM_000053.4

p.M769fs

c.2305_2306fs

8 papers

NM_000053.4

p.M769I

c.2307G>C

8 papers

NM_000053.4

p.M769I

c.2307G>A

31 papers

NM_000053.4

p.M769fs

c.2305_2306fs

4 papers

NM_000053.4

p.M769L

c.2305A>T

80 papers

NM_000053.4

p.M769V

c.2305A>G

4 papers

NM_000053.4

p.M769L

c.2305A>C

142 papers

NM_000053.4

p.P767insFs

c.2299_2300insC

18 papers

NM_000053.4

p.P768delFs

c.2304delG

6 papers

NM_000053.4

p.L770F

c.2308C>T