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.H322del1

c.964_966delATG

Surrounding Variants

2 papers

NM_001101426.4

p.Q328H

c.984G>T

1 paper

NM_001101426.4

p.Q328H

c.984G>C

1 paper

NM_001101426.4

p.T316K

c.947C>A

2 papers

NM_001101426.4

p.I331fs

c.991_992fs

4 papers

NM_001101426.4

p.I330delFs

c.990delG

1 paper

NM_001101426.4

p.C340delins

c.1019_1020delinsTT

4 papers

NM_001101426.4

p.N342_V343Splc

c.1026+1G>A

1 paper

NM_001101426.4

p.N342_V343Splc

c.1026+6T>G

2 papers

NM_001101426.4

p.N342_V343Splc

c.1026+6T>A

2 papers

NM_001101426.4

p.N342_V343Splc

c.1027-10G>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