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.L273Q

c.818T>A

Surrounding Variants

1 paper

NM_000032.5

p.G275Splc

c.823+1G>A

1 paper

NM_000032.5

p.A270insFs

c.809dupC

1 paper

NM_000032.5

p.A270insFs

c.808dupG

1 paper

NM_000032.5

p.A270D

c.809C>A

3 papers

NM_000032.5

p.F267S

c.800T>C

1 paper

NM_000032.5

p.S264F

c.791C>T

3 papers

NM_000032.5

p.S264Y

c.791C>A

7 papers

NM_000032.5

p.D263N

c.787G>A

1 paper

NM_000032.5

p.A261V

c.782C>T

1 paper

NM_000032.5

p.V260I

c.778G>A

3 papers

NM_000032.5

p.F259C

c.776T>G

2 papers

NM_000032.5

p.S257F

c.770C>T