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.A53T

c.157G>A

Surrounding Variants

1 paper

NM_001101426.4

p.V50_L51delFs

c.150_153del4

1 paper

NM_001101426.4

p.G54V

c.161G>T

5 papers

NM_001101426.4

p.G54A

c.161G>C

1 paper

NM_001101426.4

p.G55E

c.164G>A

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.C56fs

c.166_167fs

1 paper

NM_001101426.4

p.V62fs

c.184_185fs

1 paper

NM_001101426.4

p.V62delFs

c.184delC

1 paper

NM_001101426.4

p.R42H

c.125G>A

1 paper

NM_001101426.4

p.G41G

c.123G>A

2 papers

NM_001101426.4

p.Q67H

c.201A>T