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

1 paper

NM_000032.5

p.I469delins

c.1405delinsCCACACAGGC

Surrounding Variants

3 papers

NM_000032.5

p.C471Y

c.1412G>A

9 papers

NM_000032.5

p.I476N

c.1427T>A

2 papers

NM_000032.5

p.L461H

c.1382T>A

2 papers

NM_000032.5

p.P477S

c.1429C>T

3 papers

NM_000032.5

p.R479Q

c.1436G>A

2 papers

NM_000032.5

p.R479R

c.1437G>C

6 papers

NM_000032.5

p.R458H

c.1373G>A

1 paper

NM_000032.5

p.R479_V480Splc

c.1437+1G>A

1 paper

NM_000032.5

p.R479_V480Splc

c.1437+2T>A

1 paper

NM_000032.5

p.K455_H456del1

c.1365_1367delTGC

3 papers

NM_000032.5

p.R452L

c.1355G>T

27 papers

NM_000032.5

p.R452H

c.1355G>A