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.L1227P

c.3680T>C

Surrounding Variants

1 paper

NM_007335.4

p.V1230A

c.3689T>C

1 paper

NM_007335.4

p.A1255P

c.3763G>C

1 paper

NM_007335.4

p.M1261V

c.3781A>G

1 paper

NM_007335.4

p.R1262R

c.3786G>A

1 paper

NM_007335.4

p.I1220N

c.3659T>A

1 paper

NM_007335.4

p.L1219H

c.3656T>A

1 paper

NM_007335.4

p.D1217Fs

c.3650delinsACFs

3 papers

NM_007335.4

p.V1304G

c.3911T>G

2 papers

NM_007335.4

p.E1346K

c.4036G>A

1 paper

NM_007335.4

p.E1378D

c.4134G>C

1 paper

NM_007335.4

p.E1378D

c.4134G>T

1 paper

NM_007335.4

p.A1154D

c.3461C>A