Varaico: Literature-Extracted Genetic Variants

IFT52

45 papers

RefSeq Summary

This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core comp...

Pfam Domains

IFT52_GIFTaa 8–253UCSCIFT52 GIFT domain

IFT52_centralaa 269–349UCSCIFT52 central domain

Itf52_Caa 360–411UCSCIntraflagellar transport protein 52, C-terminal domain

Gene Aliases

HGNC Name

intraflagellar transport 52

HGNC Alias Symbols

CGI-53; NGD5; dJ1028D15.1; NGD2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

6 papers

NM_016004.5

p.R142*

c.424C>T

5 papers

NM_016004.5

p.A199T

c.595G>A

5 papers

NM_016004.5

p.L293delFs

c.878delT

4 papers

NM_016004.5

p.T186A

c.556A>G

3 papers

NM_016004.5

p.N98S

c.293A>G

3 papers

NM_016004.5

p.I232_M233delins

c.695_699delinsCA

3 papers

NM_016004.5

p.L293fs

c.877_878fs

2 papers

NM_016004.5

p.D259H

c.775G>C

1 paper

NM_016004.5

p.M1insFs

c.2_3insT

1 paper

NM_016004.5

p.M1V

c.1A>G

1 paper

NM_016004.5

p.F19delFs

c.55delT

1 paper

NM_016004.5

p.S40R

c.118A>C