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

1–12 of 408 variants

6 papers

NM_015662.3

p.R1544C

c.4630C>T

5 papers

NM_015662.3

p.A837T

c.2509G>A

5 papers

NM_015662.3

p.S924A

c.2770T>G

5 papers

NM_015662.3

p.K1037_E1038Splc

c.3112-5T>A

5 papers

NM_015662.3

p.L1564P

c.4691T>C

4 papers

NM_015662.3

p.R296W

c.886C>T

4 papers

NM_015662.3

p.R505W

c.1513C>T

4 papers

NM_015662.3

p.R572Q

c.1715G>A

4 papers

NM_015662.3

p.R908Q

c.2723G>A

4 papers

NM_015662.3

p.R1134L

c.3401G>T

4 papers

NM_015662.3

p.R1303*

c.3907C>T

4 papers

NM_015662.3

p.C1727R

c.5179T>C