Varaico: Literature-Extracted Genetic Variants

ATP13A3

112 papers

RefSeq Summary

ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OM...

Pfam Domains

P5-ATPaseaa 13–150UCSCP5-type ATPase cation transporter

Cation_ATPase_Naa 168–226UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 266–397UCSCP-type ATPase actuator domain

Cation_ATPaseaa 607–729UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A3

HGNC Alias Symbol

AFURS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367549.1

p.I1068V

c.3202A>G

Surrounding Variants

1 paper

NM_001367549.1

p.I1068T

c.3203T>C

1 paper

NM_001367549.1

p.I1079fs

c.3235_3236fs

1 paper

NM_001367549.1

p.D1042Splc

c.3126-4C>G

1 paper

NM_001367549.1

p.P1100T

c.3298C>A

2 papers

NM_001367549.1

p.C1101*

c.3303C>A

1 paper

NM_001367549.1

p.S1041L

c.3122C>T

1 paper

NM_001367549.1

p.K1029R

c.3086A>G

1 paper

NM_001367549.1

p.W1027fs

c.3079_3080fs

2 papers

NM_001367549.1

p.W1027insFs

c.3079dupT

2 papers

NM_001367549.1

p.W1027delFs

c.3079delA

2 papers

NM_001367549.1

p.W1027fs

c.3079_3080fs

1 paper

NM_001367549.1

p.G1024fs

c.3070_3071fs