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

1 paper

NM_007335.4

p.Q833K

c.2497C>A

Surrounding Variants

1 paper

NM_007335.4

p.P843S

c.2527C>T

1 paper

NM_007335.4

p.P843R

c.2528C>G

1 paper

NM_007335.4

p.P845A

c.2533C>G

1 paper

NM_007335.4

p.S814I

c.2441G>T

1 paper

NM_007335.4

p.R872C

c.2614C>T

1 paper

NM_007335.4

p.I881V

c.2641A>G

1 paper

NM_007335.4

p.N885K

c.2655C>A

1 paper

NM_007335.4

p.N885K

c.2655C>G

1 paper

NM_007335.4

p.V886I

c.2656G>A

1 paper

NM_007335.4

p.Q888K

c.2662C>A

1 paper

NM_007335.4

p.A891G

c.2672C>G

1 paper

NM_007335.4

p.P806A

c.2416C>G