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.K89E

c.265A>G

Surrounding Variants

4 papers

NM_198505.4

p.S96Y

c.287C>A

1 paper

NM_198505.4

p.E107K

c.319G>A

1 paper

NM_198505.4

p.R114H

c.341G>A

1 paper

NM_198505.4

p.M132L

c.394A>T

1 paper

NM_198505.4

p.M132L

c.394A>C

3 papers

NM_198505.4

p.E133Q

c.397G>C

1 paper

NM_198505.4

p.Q135*

c.403C>T

1 paper

NM_198505.4

p.T79_D80Splc

c.237+5G>A

1 paper

NM_198505.4

p.C66*

c.198C>A

1 paper

NM_198505.4

p.V59_A61del3

c.175_182del9

1 paper

NM_198505.4

p.V59_A61del0

c.176_181del6

1 paper

NM_198505.4

p.W57delFs

c.171delC