Varaico: Literature-Extracted Genetic Variants

IFT172

285 papers

RefSeq Summary

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associat...

Pfam Domains

WD40aa 4–44UCSCWD domain, G-beta repeat

TPR_IFT80_172aa 605–743UCSCIFT80/172/WDR35/WDR19 TPR domain

TPR_IF140-IFT172aa 1004–1189UCSCIF140/IFT172 TPR domain

Gene Aliases

HGNC Name

intraflagellar transport 172

HGNC Alias Symbols

SLB; wim; osm-1; NPHP17; BBS20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015662.3

p.N285S

c.854A>G

Surrounding Variants

1 paper

NM_015662.3

p.Y287fs

c.859_860fs

1 paper

NM_015662.3

p.E282K

c.844G>A

1 paper

NM_015662.3

p.L286_T290delFs

c.856_868del13

1 paper

NM_015662.3

p.A291delFs

c.871delC

1 paper

NM_015662.3

p.A291fs

c.871_872fs

2 papers

NM_015662.3

p.A293T

c.877G>A

4 papers

NM_015662.3

p.R296W

c.886C>T

2 papers

NM_015662.3

p.D297V

c.890A>T

1 paper

NM_015662.3

p.D297G

c.890A>G

1 paper

NM_015662.3

p.R296delFs

c.888delC

1 paper

NM_015662.3

p.R272T

c.815G>C

1 paper

NM_015662.3

p.R271*

c.811C>T