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.W24*

c.71G>A

Surrounding Variants

1 paper

NM_007335.4

p.W24*

c.72G>A

1 paper

NM_007335.4

p.M23V

c.67A>G

1 paper

NM_007335.4

p.G32R

c.94G>A

1 paper

NM_007335.4

p.G32R

c.94G>C

1 paper

NM_007335.4

p.T16A

c.46A>G

1 paper

NM_007335.4

p.S35insFs

c.105dupC

1 paper

NM_007335.4

p.W41_L45del0

c.122_133del12

1 paper

NM_007335.4

p.S6T

c.16T>A

1 paper

NM_007335.4

p.A50A

c.150C>T

1 paper

NM_007335.4

p.R74H

c.221G>A

3 papers

NM_007335.4

p.L79R

c.236T>G

1 paper

NM_007335.4

p.P84S

c.250C>T