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

2 papers

NM_000032.5

p.L518F

c.1554G>T

Surrounding Variants

2 papers

NM_000032.5

p.L518F

c.1554G>C

1 paper

NM_000032.5

p.R517L

c.1550G>T

1 paper

NM_000032.5

p.P520A

c.1558C>G

16 papers

NM_000032.5

p.P520L

c.1559C>T

10 papers

NM_000032.5

p.R517C

c.1549C>T

4 papers

NM_000032.5

p.R517G

c.1549C>G

1 paper

NM_000032.5

p.P520P

c.1560C>A

1 paper

NM_000032.5

p.H523R

c.1568A>G

1 paper

NM_000032.5

p.E513E

c.1539A>G

7 papers

NM_000032.5

p.H524D

c.1570C>G

1 paper

NM_000032.5

p.E513Q

c.1537G>C

1 paper

NM_000032.5

p.H524R

c.1571A>G