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

2 papers

NM_007335.4

p.R1125Q

c.3374G>A

Surrounding Variants

1 paper

NM_007335.4

p.P1123L

c.3368C>T

1 paper

NM_007335.4

p.R1127H

c.3380G>A

1 paper

NM_007335.4

p.R1114H

c.3341G>A

1 paper

NM_007335.4

p.R1114C

c.3340C>T

1 paper

NM_007335.4

p.T1146P

c.3436A>C

1 paper

NM_007335.4

p.E1089*

c.3265G>T

1 paper

NM_007335.4

p.E1082E

c.3246G>A

3 papers

NM_007335.4

p.N1150D

c.3448A>G

1 paper

NM_007335.4

p.A1154D

c.3461C>A

1 paper

NM_007335.4

p.A1154V

c.3461C>T

2 papers

NM_007335.4

p.A1040T

c.3118G>A

1 paper

NM_007335.4

p.C1032Y

c.3095G>A