Varaico: Literature-Extracted Genetic Variants

ALAS2

240 papers

RefSeq Summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-lin...

Pfam Domains

Preseq_ALASaa 5–100UCSC5-aminolevulinate synthase presequence

Aminotran_1_2aa 189–536UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

5'-aminolevulinate synthase 2

HGNC Alias Symbol

ALAS-E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_000032.5

p.R411C

c.1231C>T

Surrounding Variants

10 papers

NM_000032.5

p.R411H

c.1232G>A

1 paper

NM_000032.5

p.T403_L406del0

c.1207_1218del12

4 papers

NM_000032.5

p.L406F

c.1218G>T

4 papers

NM_000032.5

p.L406F

c.1218G>C

1 paper

NM_000032.5

p.A415V

c.1244C>T

8 papers

NM_000032.5

p.G416D

c.1247G>A

2 papers

NM_000032.5

p.D405E

c.1215C>G

1 paper

NM_000032.5

p.F417S

c.1250T>C

3 papers

NM_000032.5

p.I418S

c.1253T>G

1 paper

NM_000032.5

p.T420insFs

c.1260dupC

3 papers

NM_000032.5

p.I400M

c.1200T>G

1 paper

NM_000032.5

p.T421insFs

c.1261dupA