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_001330578.2

p.V1028_S1029Fs

c.3083_3085delinsGFs

Surrounding Variants

1 paper

NM_000053.4

p.S1107C

c.3319A>T

1 paper

NM_000053.4

p.S1107G

c.3319A>G

1 paper

NM_000053.4

p.V1106V

c.3318C>T

1 paper

NM_000053.4

p.V1106A

c.3317T>C

6 papers

NM_000053.4

p.V1106D

c.3317T>A

66 papers

NM_000053.4

p.V1106I

c.3316G>A

2 papers

NM_000053.4

p.S1107delFs

c.3321delG

1 paper

NM_000053.4

p.S1107_N1108del1

c.3320_3322delTGC

2 papers

NM_000053.4

p.N1108N

c.3324C>T

1 paper

NM_000053.4

p.V1109L

c.3325G>T

1 paper

NM_000053.4

p.V1109_E1110ins5

c.3325_3329ins15

2 papers

NM_000053.4

p.V1109L

c.3325G>C