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

1–12 of 115 variants

16 papers

NM_013386.5

p.R217H

c.650G>A

14 papers

NM_013386.5

p.R217C

c.649C>T

3 papers

NM_013386.5

p.G104Splc

c.311-43C>T

3 papers

NM_013386.5

p.S133Splc

c.398+45T>C

2 papers

NM_013386.5

p.E43Q

c.127G>C

2 papers

NM_013386.5

p.W147*

c.440G>A

2 papers

NM_013386.5

p.E188K

c.562G>A

1 paper

NM_013386.5

p.L2delFs

c.5delA

1 paper

NM_013386.5

p.R3H

c.8G>A

1 paper

NM_013386.5

p.R3delFs

c.7_8delCG

1 paper

NM_013386.5

p.D7_F8del2

c.19_23del6

1 paper

NM_013386.5

p.P11A

c.31C>G