Varaico: Literature-Extracted Genetic Variants

DLEC1

165 papers

RefSeq Summary

The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human ca...

Pfam Domains

DLEC1_helicalaa 139–217UCSCDLEC1 helical domain

Ig_Dlec1_1aa 372–470UCSCDeleted in lung and esophageal cancer protein 1 Ig domain

Ig_DLEC1_6thaa 966–1070UCSCDLEC1 sixth Ig-like domain

Gene Aliases

HGNC Name

DLEC1 cilia and flagella associated protein

HGNC Alias Symbols

CFAP81; FAP81

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007335.4

p.S192F

c.575C>T

Surrounding Variants

1 paper

NM_007335.4

p.R193G

c.577A>G

1 paper

NM_007335.4

p.C195Y

c.584G>A

1 paper

NM_007335.4

p.V188Splc

c.563-1G>T

4 papers

NM_007335.4

p.D215N

c.643G>A

1 paper

NM_007335.4

p.G225Splc

c.673+1G>A

1 paper

NM_007335.4

p.F236F

c.708T>C

1 paper

NM_007335.4

p.S242S

c.726C>T

3 papers

NM_007335.4

p.E264K

c.790G>A

1 paper

NM_007335.4

p.P280L

c.839C>T

1 paper

NM_007335.4

p.T286I

c.857C>T

1 paper

NM_007335.4

p.P296S

c.886C>T

1 paper

NM_007335.4

p.R297K

c.890G>A