Varaico: Literature-Extracted Genetic Variants

SLC25A38

83 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of ...

Pfam Domains

Mito_carraa 24–119UCSCMitochondrial carrier protein

Mito_carraa 119–210UCSCMitochondrial carrier protein

Mito_carraa 214–304UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 38

HGNC Alias Symbol

FLJ20551

Papers

RefSeq ID

Protein change

DNA change

1–12 of 119 variants

8 papers

NM_017875.4

p.R117*

c.349C>T

8 papers

NM_017875.4

p.R134H

c.401G>A

8 papers

NM_017875.4

p.R187Q

c.560G>A

7 papers

NM_017875.4

p.R134C

c.400C>T

5 papers

NM_017875.4

p.L108_Y109delFs

c.324_325delCT

5 papers

NM_017875.4

p.A137insFs

c.409dupG

5 papers

NM_017875.4

p.R187P

c.560G>C

4 papers

NM_017875.4

p.Q56K

c.166C>A

4 papers

NM_017875.4

p.G130E

c.389G>A

4 papers

NM_017875.4

p.S160insFs

c.480dupT

4 papers

NM_017875.4

p.L196P

c.587T>C

4 papers

NM_017875.4

p.R278G

c.832C>G