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.I744T

c.2231T>C

Surrounding Variants

6 papers

NM_198505.4

p.G739S

c.2215G>A

1 paper

NM_198505.4

p.S733F

c.2198C>T

3 papers

NM_198505.4

p.A756T

c.2266G>A

2 papers

NM_198505.4

p.S757S

c.2271T>C

1 paper

NM_198505.4

p.Q761*

c.2281C>T

1 paper

NM_198505.4

p.G720Splc

c.2159-5T>C

1 paper

NM_198505.4

p.G720Splc

c.2158+4T>C

1 paper

NM_198505.4

p.R696C

c.2086C>T

1 paper

NM_198505.4

p.T686I

c.2057C>T

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.R786H

c.2357G>A