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.R116H

c.347G>A

Surrounding Variants

2 papers

NM_001101426.4

p.R116C

c.346C>T

4 papers

NM_001101426.4

p.H114D

c.340C>G

5 papers

NM_001101426.4

p.A122P

c.364G>C

3 papers

NM_001101426.4

p.G123R

c.367G>C

4 papers

NM_001101426.4

p.G123R

c.367G>A

1 paper

NM_001101426.4

p.G123A

c.368G>C

1 paper

NM_001101426.4

p.R126C

c.376C>T

6 papers

NM_001101426.4

p.R126H

c.377G>A

4 papers

NM_001101426.4

p.A136V

c.407C>T

3 papers

NM_001101426.4

p.I93del1

c.277_278delAAT

1 paper

NM_001101426.4

p.R86Splc

c.258-1G>A

2 papers

NM_001101426.4

p.R86*

c.256A>T