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

4 papers

NM_001101426.4

p.L18insFs

c.53dupT

Surrounding Variants

3 papers

NM_001101426.4

p.L18L

c.54G>A

1 paper

NM_001101426.4

p.L18insFs

c.52dupC

2 papers

NM_001101426.4

p.S19fs

c.55_56fs

2 papers

NM_001101426.4

p.S19R

c.55A>C

2 papers

NM_001101426.4

p.S19fs

c.55_56fs

2 papers

NM_001101426.4

p.S19R

c.57T>G

2 papers

NM_001101426.4

p.S19R

c.57T>A

1 paper

NM_001101426.4

p.T27P

c.79A>C

4 papers

NM_001101426.4

p.E2V

c.5A>T

2 papers

NM_001101426.4

p.M1R

c.2T>G

1 paper

NM_001101426.4

p.G41G

c.123G>A

1 paper

NM_001101426.4

p.R42H

c.125G>A