Varaico: Literature-Extracted Genetic Variants

ATP13A5

110 papers

RefSeq Summary

This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates acro...

Pfam Domains

P5-ATPaseaa 17–142UCSCP5-type ATPase cation transporter

Cation_ATPase_Naa 155–218UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 258–385UCSCP-type ATPase actuator domain

Cation_ATPaseaa 584–700UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A5

HGNC Alias Symbol

FLJ16025

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198505.4

p.G545R

c.1633G>A

Surrounding Variants

1 paper

NM_198505.4

p.G545R

c.1633G>C

1 paper

NM_198505.4

p.I537N

c.1610T>A

1 paper

NM_198505.4

p.I537V

c.1609A>G

1 paper

NM_198505.4

p.S532fs

c.1594_1595fs

1 paper

NM_198505.4

p.S532delFs

c.1594_1595delCT

2 papers

NM_198505.4

p.S532T

c.1595G>C

1 paper

NM_198505.4

p.A531fs

c.1591_1592fs

1 paper

NM_198505.4

p.A531insFs

c.1591_1592ins22

1 paper

NM_198505.4

p.V521V

c.1563G>A

1 paper

NM_198505.4

p.G518G

c.1554C>T

1 paper

NM_198505.4

p.G518S

c.1552G>A

1 paper

NM_198505.4

p.S517L

c.1550C>T