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

7 papers

NM_000032.5

p.R163H

c.488G>A

Surrounding Variants

1 paper

NM_000032.5

p.V164L

c.490G>T

1 paper

NM_000032.5

p.V164L

c.490G>C

4 papers

NM_000032.5

p.Y162C

c.485A>G

12 papers

NM_000032.5

p.F165L

c.493T>C

12 papers

NM_000032.5

p.F165L

c.495C>G

12 papers

NM_000032.5

p.F165L

c.495C>A

4 papers

NM_000032.5

p.T161A

c.481A>G

1 paper

NM_000032.5

p.K166M

c.497A>T

1 paper

NM_000032.5

p.D159delFs

c.475delC

8 papers

NM_000032.5

p.D159Y

c.475G>T

5 papers

NM_000032.5

p.D159N

c.475G>A

1 paper

NM_000032.5

p.R163_T167delFs

c.488_501del14