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.M233Fs

c.699delinsCAFs

Surrounding Variants

3 papers

NM_016004.5

p.I232_M233delins

c.695_699delinsCA

1 paper

NM_016004.5

p.Q238*

c.712C>T

1 paper

NM_016004.5

p.E256_I257Splc

c.768+1G>A

1 paper

NM_016004.5

p.E256_I257Splc

c.768+2T>C

1 paper

NM_016004.5

p.K204_N205Splc

c.612+1189T>C

1 paper

NM_016004.5

p.K204_N205Splc

c.612+505G>A

2 papers

NM_016004.5

p.D259H

c.775G>C

1 paper

NM_016004.5

p.A267V

c.800C>T

1 paper

NM_016004.5

p.R272Q

c.815G>A

1 paper

NM_016004.5

p.L277I

c.829C>A

1 paper

NM_016004.5

p.E282K

c.844G>A

5 papers

NM_016004.5

p.L293delFs

c.878delT