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.P214L

c.641C>T

Surrounding Variants

6 papers

NM_001101426.4

p.Q215*

c.643C>T

4 papers

NM_001101426.4

p.M213R

c.638T>G

2 papers

NM_001101426.4

p.Q215H

c.645A>T

1 paper

NM_001101426.4

p.M213V

c.637A>G

2 papers

NM_001101426.4

p.Q215H

c.645A>C

5 papers

NM_001101426.4

p.A216D

c.647C>A

1 paper

NM_001101426.4

p.S211G

c.631A>G

1 paper

NM_001101426.4

p.L218P

c.653T>C

1 paper

NM_001101426.4

p.R209fs

c.625_626fs

1 paper

NM_001101426.4

p.R209T

c.626G>C

1 paper

NM_001101426.4

p.R209*

c.625A>T

4 papers

NM_001101426.4

p.D220V

c.659A>T