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.V1239V

c.3717C>G

Surrounding Variants

1 paper

NM_000053.4

p.V1239insFs

c.3715dupG

9 papers

NM_000053.4

p.V1239G

c.3716T>G

1 paper

NM_000053.4

p.F1240L

c.3718T>C

1 paper

NM_000053.4

p.F1240C

c.3719T>G

5 papers

NM_000053.4

p.V1239F

c.3715G>T

1 paper

NM_000053.4

p.K1238delFs

c.3713_3714delTT

5 papers

NM_000053.4

p.A1241V

c.3722C>T

1 paper

NM_000053.4

p.K1238E

c.3712A>G

5 papers

NM_000053.4

p.E1242K

c.3724G>A

1 paper

NM_001005918.3

p.G1028_I1029Fs

c.3083_3085delinsGFs

3 papers

NM_000053.4

p.V1243L

c.3727G>T

3 papers

NM_000053.4

p.V1243L

c.3727G>C