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

3 papers

NM_015662.3

p.R487C

c.1459C>T

Surrounding Variants

1 paper

NM_015662.3

p.S486insFs

c.1456dupA

1 paper

NM_015662.3

p.D489insFs

c.1467dupT

2 papers

NM_015662.3

p.V482G

c.1445T>G

1 paper

NM_015662.3

p.L493R

c.1478T>G

1 paper

NM_015662.3

p.E495E

c.1485G>A

1 paper

NM_015662.3

p.N478I

c.1433A>T

1 paper

NM_015662.3

p.I474V

c.1420A>G

1 paper

NM_015662.3

p.R503G

c.1507A>G

4 papers

NM_015662.3

p.R505W

c.1513C>T

1 paper

NM_015662.3

p.H498_K506del9

c.1492_1517del27

1 paper

NM_015662.3

p.R508C

c.1522C>T

1 paper

NM_015662.3

p.R508_L509Splc

c.1525-1G>A