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

1–12 of 145 variants

6 papers

NM_198505.4

p.G739S

c.2215G>A

5 papers

NM_198505.4

p.Q355*

c.1063C>T

4 papers

NM_198505.4

p.S96Y

c.287C>A

4 papers

NM_198505.4

p.A677V

c.2030C>T

3 papers

NM_198505.4

p.E133Q

c.397G>C

3 papers

NM_198505.4

p.A756T

c.2266G>A

2 papers

NM_198505.4

p.W57fs

c.169_170fs

2 papers

NM_198505.4

p.M476I

c.1428G>T

2 papers

NM_198505.4

p.M476I

c.1428G>C

2 papers

NM_198505.4

p.M476I

c.1428G>A

2 papers

NM_198505.4

p.S532T

c.1595G>C

2 papers

NM_198505.4

p.P640L

c.1919C>T