Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.L136V

CDAN1

212 papers

RefSeq Summary

This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia typ...

Pfam Domains

Codanin-1_Caa 784–899UCSCCodanin-1 C-terminus

Gene Aliases

HGNC Name

codanin 1

HGNC Alias Symbols

CDA-I; CDAI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138477.4
p.L136V
c.406C>G
Surrounding Variants
1 paper
NM_138477.4
p.G139R
c.415G>C
1 paper
NM_138477.4
p.G142G
c.426G>A
1 paper
NM_138477.4
p.R129H
c.386G>A
1 paper
NM_138477.4
p.R129S
c.385C>A
1 paper
NM_138477.4
p.P146fs
c.436_437fs
1 paper
NM_138477.4
p.A148V
c.443C>T
1 paper
NM_138477.4
p.R151fs
c.451_452fs
1 paper
NM_138477.4
p.L153F
c.457C>T
1 paper
NM_138477.4
p.R151_L153delFs
c.451_457del7
1 paper
NM_138477.4
p.G155_G157delFs
c.463_470del8
1 paper
NM_138477.4
p.P159P
c.477C>G
1 paper
NM_138477.4
p.E112A
c.335A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."