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

14 papers

NM_001101426.4

p.V372del1

c.1114_1115delAAC

Surrounding Variants

1 paper

NM_001101426.4

p.S373del1

c.1117_1118delTGA

1 paper

NM_001101426.4

p.S373_V374Splc

c.1119+2T>G

2 papers

NM_001101426.4

p.V369G

c.1106T>G

1 paper

NM_001101426.4

p.V369I

c.1105G>A

3 papers

NM_001101426.4

p.M357T

c.1070T>C

1 paper

NM_001101417.4

p.L305P

c.914T>C

1 paper

NM_001101426.4

p.K353K

c.1059G>A

1 paper

NM_001101426.4

p.Q352K

c.1054C>A

1 paper

NM_001101426.4

p.N342_V343Splc

c.1027-3T>G

1 paper

NM_001101426.4

p.N342_V343Splc

c.1027-3T>C

2 papers

NM_001101426.4

p.N342_V343Splc

c.1027-10G>A

1 paper

NM_001101426.4

p.N342_V343Splc

c.1026+6T>G