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

2 papers

NM_015662.3

p.G1690R

c.5068G>C

Surrounding Variants

2 papers

NM_015662.3

p.G1690R

c.5068G>A

1 paper

NM_015662.3

p.Y1691H

c.5071T>C

2 papers

NM_015662.3

p.G1690R

c.5068G>C

1 paper

NM_015662.3

p.R1682*

c.5044C>T

1 paper

NM_015662.3

p.A1672V

c.5015C>T

1 paper

NM_015662.3

p.Y1670C

c.5009A>G

1 paper

NM_015662.3

p.D1665G

c.4994A>G

1 paper

NM_015662.3

p.R1646Q

c.4937G>A

3 papers

NM_015662.3

p.V1645I

c.4933G>A

1 paper

NM_015662.3

p.R1642_E1643delFs

c.4925_4928del4

1 paper

NM_015662.3

p.R1642fs

c.4924_4925fs

4 papers

NM_015662.3

p.C1727R

c.5179T>C