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

Selected Variant

1 paper

NM_016004.5

p.Q162Splc

c.485+1223T>C

Surrounding Variants

1 paper

NM_016004.5

p.Q162Splc

c.485+2116T>C

6 papers

NM_016004.5

p.R142*

c.424C>T

1 paper

NM_016004.5

p.K127E

c.379A>G

1 paper

NM_016004.5

p.I108I

c.324C>T

1 paper

NM_016004.5

p.I99fs

c.295_296fs

3 papers

NM_016004.5

p.N98S

c.293A>G

1 paper

NM_016004.5

p.T97_N98insFs

c.290_293dup4

1 paper

NM_016004.5

p.Q162Splc

c.486-3633G>A

1 paper

NM_016004.5

p.E69_F70Splc

c.208-1705T>C

1 paper

NM_016004.5

p.Q162Splc

c.486-10T>C

1 paper

NM_016004.5

p.Q162Splc

c.486-2A>G

1 paper

NM_016004.5

p.G171V

c.512G>T