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.C634delFs

c.1900delA

Surrounding Variants

1 paper

NM_198505.4

p.K624R

c.1871A>G

1 paper

NM_198505.4

p.A611T

c.1831G>A

1 paper

NM_198505.4

p.I610F

c.1828A>T

1 paper

NM_198505.4

p.Q597H

c.1791G>T

1 paper

NM_198505.4

p.T594I

c.1781C>T

1 paper

NM_198505.4

p.P582A

c.1744C>G

1 paper

NM_198505.4

p.P580L

c.1739C>T

2 papers

NM_198505.4

p.P640L

c.1919C>T

1 paper

NM_198505.4

p.R648S

c.1944G>T

1 paper

NM_198505.4

p.R648S

c.1944G>C

1 paper

NM_198505.4

p.V652V

c.1956G>T

1 paper

NM_198505.4

p.A659S

c.1975G>T