Varaico: Literature-Extracted Genetic Variants

CRPPA

110 papers

RefSeq Summary

This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple trans...

Pfam Domains

IspDaa 47–279UCSC2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase

ISPD_Caa 283–430UCSCD-ribitol-5-phosphate cytidylyltransferase C-terminal domain

Gene Aliases

HGNC Name

CDP-L-ribitol pyrophosphorylase A

HGNC Previous Symbol

ISPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001101426.4

p.P149L

c.446C>T

Surrounding Variants

1 paper

NM_001101426.4

p.V151A

c.452T>C

3 papers

NM_001101426.4

p.I153F

c.457A>T

2 papers

NM_001101426.4

p.I153T

c.458T>C

1 paper

NM_001101426.4

p.E150_I153del4

c.448_458del12

1 paper

NM_001101426.4

p.H155Y

c.463C>T

4 papers

NM_001101426.4

p.H155R

c.464A>G

4 papers

NM_001101426.4

p.D156N

c.466G>A

1 paper

NM_001101426.4

p.R159T

c.476G>C

4 papers

NM_001101426.4

p.A136V

c.407C>T

5 papers

NM_001101426.4

p.K169*

c.505A>T

6 papers

NM_001101426.4

p.R126H

c.377G>A

1 paper

NM_001101426.4

p.R126C

c.376C>T