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.Q1394H

c.4182G>C

Surrounding Variants

1 paper

NM_015662.3

p.D1390_H1395del6

c.4168_4184del18

1 paper

NM_015662.3

p.E1398*

c.4192G>T

1 paper

NM_015662.3

p.Y1388C

c.4163A>G

2 papers

NM_015662.3

p.R1387R

c.4161G>A

1 paper

NM_015662.3

p.R1387Splc

c.4161-1G>A

1 paper

NM_015662.3

p.G1404S

c.4210G>A

1 paper

NM_015662.3

p.R1387Splc

c.4160+2T>A

2 papers

NM_015662.3

p.R1387fs

c.4159_4160fs

1 paper

NM_015662.3

p.V1410L

c.4228G>T

1 paper

NM_015662.3

p.R1379H

c.4136G>A

2 papers

NM_015662.3

p.R1379C

c.4135C>T

1 paper

NM_015662.3

p.A1377V

c.4130C>T