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.Q803L

c.2408A>T

Surrounding Variants

1 paper

NM_198505.4

p.M797I

c.2391G>T

1 paper

NM_198505.4

p.M797I

c.2391G>C

1 paper

NM_198505.4

p.M797I

c.2391G>A

1 paper

NM_198505.4

p.M797T

c.2390T>C

1 paper

NM_198505.4

p.R786H

c.2357G>A

1 paper

NM_198505.4

p.G780R

c.2338G>C

1 paper

NM_198505.4

p.G780R

c.2338G>A

1 paper

NM_198505.4

p.R825G

c.2473A>G

1 paper

NM_198505.4

p.Q839H

c.2517G>T

1 paper

NM_198505.4

p.Q839H

c.2517G>C

1 paper

NM_198505.4

p.K840fs

c.2518_2519fs

1 paper

NM_198505.4

p.K840fs

c.2518_2519fs