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

5 papers

NM_015662.3

p.S924A

c.2770T>G

Surrounding Variants

1 paper

NM_015662.3

p.Y922_A923delFs

c.2765_2768del4

1 paper

NM_015662.3

p.Q920*

c.2758C>T

4 papers

NM_015662.3

p.R908Q

c.2723G>A

1 paper

NM_015662.3

p.Q906*

c.2716C>T

2 papers

NM_015662.3

p.A890T

c.2668G>A

1 paper

NM_015662.3

p.A886S

c.2656G>T

1 paper

NM_015662.3

p.H876N

c.2626C>A

1 paper

NM_015662.3

p.Q866R

c.2597A>G

1 paper

NM_015662.3

p.H863Y

c.2587C>T

1 paper

NM_015662.3

p.G861R

c.2581G>C

1 paper

NM_015662.3

p.G861R

c.2581G>A

1 paper

NM_015662.3

p.V853G

c.2558T>G