Varaico: Literature-Extracted Genetic Variants

SLC25A24

111 papers

RefSeq Summary

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May...

Pfam Domains

EF-hand_7aa 22–85UCSCEF-hand domain pair

EF-hand_7aa 88–152UCSCEF-hand domain pair

Mito_carraa 190–283UCSCMitochondrial carrier protein

Mito_carraa 284–376UCSCMitochondrial carrier protein

Mito_carraa 382–475UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 24

HGNC Alias Symbols

DKFZp586G0123; APC1; SCAMC1; SCAMC-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013386.5

p.A200V

c.599C>T

Surrounding Variants

1 paper

NM_013386.5

p.G201delFs

c.603delT

1 paper

NM_013386.5

p.V207I

c.619G>A

1 paper

NM_013386.5

p.S191fs

c.571_572fs

1 paper

NM_013386.5

p.K190insFs

c.570dupA

1 paper

NM_013386.5

p.S191P

c.571T>C

1 paper

NM_013386.5

p.K190delFs

c.570delT

1 paper

NM_013386.5

p.K190fs

c.568_569fs

1 paper

NM_013386.5

p.K190fs

c.568_569fs

2 papers

NM_013386.5

p.E188K

c.562G>A

14 papers

NM_013386.5

p.R217C

c.649C>T

16 papers

NM_013386.5

p.R217H

c.650G>A

1 paper

NM_013386.5

p.E183A

c.548A>C