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.M1671T

c.5012T>C

Surrounding Variants

1 paper

NM_007335.4

p.G1674Splc

c.5020+1G>A

2 papers

NM_007335.4

p.R1666*

c.4996C>T

1 paper

NM_007335.4

p.E1656K

c.4966G>A

1 paper

NM_007335.4

p.G1645R

c.4933G>A

3 papers

NM_007335.4

p.N1690_S1691insFs

c.5068_5071dup4

3 papers

NM_007335.4

p.S1691fs

c.5071_5072fs

1 paper

NM_007335.4

p.A1696S

c.5086G>T

1 paper

NM_007335.4

p.A1699S

c.5095G>T

1 paper

NM_007335.4

p.A1714G

c.5141C>G

1 paper

NM_007335.4

p.A1714V

c.5141C>T

1 paper

NM_007335.4

p.Y1720*

c.5160C>A

1 paper

NM_007335.4

p.Y1720*

c.5160C>G