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

1–12 of 407 variants

27 papers

NM_000032.5

p.R452H

c.1355G>A

26 papers

NM_000032.5

p.R452C

c.1354C>T

22 papers

NM_000032.5

p.R411C

c.1231C>T

18 papers

NM_000032.5

p.R227C

c.679C>T

17 papers

NM_000032.5

p.Q548*

c.1642C>T

17 papers

NM_000032.5

p.S568G

c.1702A>G

16 papers

NM_000032.5

p.P520L

c.1559C>T

15 papers

NM_000032.5

p.R452S

c.1354C>A

14 papers

NM_000032.5

p.G291S

c.871G>A

14 papers

NM_000032.5

p.K299Q

c.895A>C

12 papers

NM_000032.5

p.F165L

c.493T>C

12 papers

NM_000032.5

p.F165L

c.495C>G