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.L582L

c.1746G>T

Surrounding Variants

2 papers

NM_007335.4

p.S562T

c.1685G>C

3 papers

NM_007335.4

p.I591delFs

c.1771_1772delAT

1 paper

NM_007335.4

p.D594N

c.1780G>A

1 paper

NM_007335.4

p.S603fs

c.1807_1808fs

1 paper

NM_007335.4

p.A615G

c.1844C>G

1 paper

NM_007335.4

p.M651V

c.1951A>G

1 paper

NM_007335.4

p.P653T

c.1957C>A

2 papers

NM_007335.4

p.E676K

c.2026G>A

1 paper

NM_007335.4

p.A678V

c.2033C>T

1 paper

NM_007335.4

p.Q713H

c.2139G>C

1 paper

NM_007335.4

p.Q713H

c.2139G>T

1 paper

NM_007335.4

p.A727V

c.2180C>T