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

2 papers

NM_000053.4

p.L1218del1

c.3652_3653delCAG

Surrounding Variants

1 paper

NM_000053.4

p.I1219F

c.3655A>T

10 papers

NM_000053.4

p.V1217_L1218del0

c.3649_3654del6

3 papers

NM_000053.4

p.L1218P

c.3653T>C

34 papers

NM_000053.4

p.T1220M

c.3659C>T

1 paper

NM_000053.4

p.T1220R

c.3659C>G

1 paper

NM_000053.4

p.T1220T

c.3660G>T

2 papers

NM_000053.4

p.T1220_G1221ins1

c.3660_3661insTGA

1 paper

NM_000053.4

p.T1220T

c.3660G>C

1 paper

NM_000053.4

p.T1220_G1221delins

c.3660_3661delinsTT

1 paper

NM_000053.4

p.I1219_T1220del2

c.3655_3659del6

1 paper

NM_000053.4

p.G1221V

c.3662G>T

3 papers

NM_000053.4

p.G1221E

c.3662G>A