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

10 papers

NM_000053.4

p.W779G

c.2335T>G

Surrounding Variants

1 paper

NM_000053.4

p.W779_L780insC

c.2335_2339ins3

1 paper

NM_000053.4

p.R778R

c.2334G>T

71 papers

NM_000053.4

p.W779*

c.2336G>A

NM_001330579.2

p.W695*

c.2084G>A

411 papers

NM_000053.4

p.R778L

c.2333G>T

1 paper

NM_000053.4

p.W779C

c.2337G>T

1 paper

NM_000053.4

p.W779C

c.2337G>C

1 paper

NM_000053.4

p.R778P

c.2333G>C

67 papers

NM_000053.4

p.W779*

c.2337G>A

NM_001330579.2

p.W695*

c.2085G>A

55 papers

NM_000053.4

p.R778Q

c.2333G>A

69 papers

NM_000053.4

p.R778W

c.2332C>T

59 papers

NM_000053.4

p.R778G

c.2332C>G

1 paper

NM_000053.4

p.L780V

c.2338C>G