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.G378E

c.1133G>A

Surrounding Variants

1 paper

NM_198505.4

p.K393T

c.1178A>C

1 paper

NM_198505.4

p.D397N

c.1189G>A

1 paper

NM_198505.4

p.R365Q

c.1094G>A

5 papers

NM_198505.4

p.Q355*

c.1063C>T

1 paper

NM_198505.4

p.V431L

c.1291G>T

1 paper

NM_198505.4

p.V431L

c.1291G>C

1 paper

NM_198505.4

p.T439I

c.1316C>T

1 paper

NM_198505.4

p.K463T

c.1388A>C

1 paper

NM_198505.4

p.F467V

c.1399T>G

1 paper

NM_198505.4

p.M476L

c.1426A>T

1 paper

NM_198505.4

p.M476L

c.1426A>C

2 papers

NM_198505.4

p.M476I

c.1428G>T