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.R139R

c.417G>C

Surrounding Variants

1 paper

NM_007335.4

p.R139Q

c.416G>A

1 paper

NM_007335.4

p.R145W

c.433C>T

1 paper

NM_007335.4

p.E153G

c.458A>G

1 paper

NM_007335.4

p.A163P

c.487G>C

2 papers

NM_007335.4

p.A174T

c.520G>A

1 paper

NM_007335.4

p.A174A

c.522T>A

1 paper

NM_007335.4

p.S181S

c.543C>T

1 paper

NM_007335.4

p.D133G

c.398A>G

1 paper

NM_007335.4

p.H128R

c.383A>G

1 paper

NM_007335.4

p.G122S

c.364G>A

1 paper

NM_007335.4

p.K119N

c.357G>C

1 paper

NM_007335.4

p.K119N

c.357G>T