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

1 paper

NM_001101426.4

p.Q417del1

c.1249_1250delCTG

Surrounding Variants

7 papers

NM_001101426.4

p.Q417Q

c.1251G>A

2 papers

NM_001101426.4

p.L411F

c.1231C>T

4 papers

NM_001101426.4

p.L407S

c.1220T>C

1 paper

NM_001101426.4

p.I406M

c.1218T>G

10 papers

NM_001101426.4

p.E396*

c.1186G>T

1 paper

NM_001101426.4

p.E396K

c.1186G>A

4 papers

NM_001101426.4

p.R395*

c.1183A>T

4 papers

NM_001101426.4

p.H375R

c.1124A>G

4 papers

NM_001101426.4

p.S373_V374Splc

c.1120-1G>T