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.A1464D

c.4391C>A

Surrounding Variants

1 paper

NM_015662.3

p.A1462A

c.4386A>T

1 paper

NM_015662.3

p.A1462T

c.4384G>A

3 papers

NM_015662.3

p.R1455W

c.4363C>T

1 paper

NM_015662.3

p.Q1476_N1477Splc

c.4428+3A>G

1 paper

NM_015662.3

p.L1442M

c.4324C>A

1 paper

NM_015662.3

p.Q1437_N1438Splc

c.4312-1G>C

1 paper

NM_015662.3

p.Q1437_N1438Splc

c.4311+1G>T

1 paper

NM_015662.3

p.I1431_Q1437delFs

c.4292_4310del19

1 paper

NM_015662.3

p.K1436Q

c.4306A>C

1 paper

NM_015662.3

p.I1431fs

c.4291_4292fs

1 paper

NM_015662.3

p.V1410L

c.4228G>T

1 paper

NM_015662.3

p.G1404S

c.4210G>A