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.C249*

c.747C>A

Surrounding Variants

1 paper

NM_001101426.4

p.Q242*

c.724C>T

1 paper

NM_001101426.4

p.S258*

c.773C>G

1 paper

NM_001101426.4

p.S258*

c.773C>A

1 paper

NM_001101426.4

p.E239fs

c.715_716fs

3 papers

NM_001101426.4

p.T238I

c.713C>T

1 paper

NM_001101426.4

p.T238S

c.712A>T

5 papers

NM_001101426.4

p.T238A

c.712A>G

1 paper

NM_001101426.4

p.G237*

c.709G>T

6 papers

NM_001101426.4

p.K263_V264Splc

c.789+2T>G

3 papers

NM_001101426.4

p.K263_V264Splc

c.789+2T>A

2 papers

NM_001101426.4

p.K263_V264Splc

c.789+973C>G

1 paper

NM_001101426.4

p.K263_V264Splc

c.790-24T>C