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

1–12 of 166 variants

14 papers

NM_001101426.4

p.V372del1

c.1114_1115delAAC

10 papers

NM_001101426.4

p.E396*

c.1186G>T

7 papers

NM_001101426.4

p.Q417Q

c.1251G>A

6 papers

NM_001101426.4

p.R126H

c.377G>A

6 papers

NM_001101426.4

p.Q215*

c.643C>T

6 papers

NM_001101426.4

p.K263_V264Splc

c.789+2T>G

5 papers

NM_001101426.4

p.G54A

c.161G>C

5 papers

NM_001101426.4

p.A122P

c.364G>C

5 papers

NM_001101426.4

p.K169*

c.505A>T

5 papers

NM_001101426.4

p.R205H

c.614G>A

5 papers

NM_001101426.4

p.A216D

c.647C>A

5 papers

NM_001101426.4

p.T238A

c.712A>G