Varaico: Literature-Extracted Genetic Variants

SLC25A21

58 papers

RefSeq Summary

SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-...

Pfam Domains

Mito_carraa 10–105UCSCMitochondrial carrier protein

Mito_carraa 106–201UCSCMitochondrial carrier protein

Mito_carraa 204–299UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 21

HGNC Previous Names

solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21; solute carrier family 25 (mitochondrial oxoadipate carrier), member 21

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

4 papers

NM_030631.4

p.K232R

c.695A>G

1 paper

NM_030631.4

p.A13S

c.37G>T

1 paper

NM_030631.4

p.A13T

c.37G>A

1 paper

NM_030631.4

p.R40Splc

c.119+11G>A

1 paper

NM_030631.4

p.D49N

c.145G>A

1 paper

NM_030631.4

p.Y53N

c.157T>A

1 paper

NM_030631.4

p.K54I

c.161A>T

1 paper

NM_030631.4

p.G68Splc

c.204-24726G>A

1 paper

NM_030631.4

p.P79S

c.235C>T

1 paper

NM_030631.4

p.E83K

c.247G>A

1 paper

NM_030631.4

p.Q96R

c.287A>G

1 paper

NM_030631.4

p.S105S

c.315A>T