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.V59_A61del3

c.175_182del9

Surrounding Variants

1 paper

NM_198505.4

p.V59_A61del0

c.176_181del6

1 paper

NM_198505.4

p.W57delFs

c.171delC

2 papers

NM_198505.4

p.W57fs

c.169_170fs

1 paper

NM_198505.4

p.W57*

c.171G>A

1 paper

NM_198505.4

p.W57*

c.170G>A

1 paper

NM_198505.4

p.C66*

c.198C>A

1 paper

NM_198505.4

p.W53R

c.157T>C

1 paper

NM_198505.4

p.W53R

c.157T>A

1 paper

NM_198505.4

p.T79_D80Splc

c.237+5G>A

1 paper

NM_198505.4

p.A34P

c.100G>C

1 paper

NM_198505.4

p.R32Q

c.95G>A

1 paper

NM_198505.4

p.R27L

c.80G>T