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.R86Splc

c.257+2T>G

Surrounding Variants

1 paper

NM_001101426.4

p.R86*

c.256A>T

1 paper

NM_001101426.4

p.R86G

c.256A>G

1 paper

NM_001101426.4

p.P75R

c.224C>G

2 papers

NM_001101426.4

p.E73*

c.217G>T

2 papers

NM_001101426.4

p.Q67H

c.201A>T

1 paper

NM_001101426.4

p.Q67H

c.201A>C

1 paper

NM_001101426.4

p.V62delFs

c.184delC

1 paper

NM_001101426.4

p.V62fs

c.184_185fs

1 paper

NM_001101426.4

p.C56fs

c.166_167fs

4 papers

NM_001101426.4

p.G55insFs

c.165dupG

1 paper

NM_001101426.4

p.C56fs

c.166_167fs

1 paper

NM_001101426.4

p.G55E

c.164G>A