Varaico: Literature-Extracted Genetic Variants

ATP7A

586 papers

RefSeq Summary

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-de...

Pfam Domains

HMAaa 11–72UCSCHeavy-metal-associated domain

HMAaa 174–235UCSCHeavy-metal-associated domain

HMAaa 280–339UCSCHeavy-metal-associated domain

HMAaa 380–441UCSCHeavy-metal-associated domain

HMAaa 492–552UCSCHeavy-metal-associated domain

HMAaa 567–628UCSCHeavy-metal-associated domain

Gene Aliases

HGNC Name

ATPase copper transporting alpha

HGNC Previous Symbol

MNK

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1007 variants

32 papers

NM_000052.7

p.G727R

c.2179G>A

29 papers

NM_000052.7

p.G727R

c.2179G>C

24 papers

NM_000052.7

p.V767L

c.2299G>C

24 papers

NM_000052.7

p.P1386S

c.4156C>T

22 papers

NM_000052.7

p.T994I

c.2981C>T

18 papers

NM_000052.7

p.A629P

c.1885G>C

16 papers

NM_000052.7

p.R201*

c.601C>T

15 papers

NM_000052.7

p.T327I

c.980C>T

15 papers

NM_000052.7

p.C1000R

c.2998T>C

15 papers

NM_000052.7

p.A1362D

c.4085C>A

13 papers

NM_000052.7

p.S637L

c.1910C>T

13 papers

NM_000052.7

p.N1304S

c.3911A>G