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

1–12 of 162 variants

4 papers

NM_007335.4

p.D215N

c.643G>A

3 papers

NM_007335.4

p.L79R

c.236T>G

3 papers

NM_007335.4

p.E264K

c.790G>A

3 papers

NM_007335.4

p.I591delFs

c.1771_1772delAT

3 papers

NM_007335.4

p.N1150D

c.3448A>G

3 papers

NM_007335.4

p.V1304G

c.3911T>G

3 papers

NM_007335.4

p.N1690_S1691insFs

c.5068_5071dup4

3 papers

NM_007335.4

p.S1691fs

c.5071_5072fs

2 papers

NM_007335.4

p.R88C

c.262C>T

2 papers

NM_007335.4

p.A174T

c.520G>A

2 papers

NM_007335.4

p.S192F

c.575C>T

2 papers

NM_007335.4

p.P351R

c.1052C>G