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

3 papers

NM_007335.4

p.L79R

c.236T>G

Surrounding Variants

1 paper

NM_007335.4

p.P84S

c.250C>T

1 paper

NM_007335.4

p.R74H

c.221G>A

2 papers

NM_007335.4

p.R88C

c.262C>T

1 paper

NM_007335.4

p.Q90R

c.269A>G

1 paper

NM_007335.4

p.H94L

c.281A>T

1 paper

NM_007335.4

p.E107K

c.319G>A

1 paper

NM_007335.4

p.A50A

c.150C>T

1 paper

NM_007335.4

p.D111N

c.331G>A

1 paper

NM_007335.4

p.I118F

c.352A>T

1 paper

NM_007335.4

p.W41_L45del0

c.122_133del12

1 paper

NM_007335.4

p.K119E

c.355A>G

1 paper

NM_007335.4

p.K119N

c.357G>C