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.D1030G

c.3089A>G

Surrounding Variants

1 paper

NM_015662.3

p.T1031delFs

c.3092delG

1 paper

NM_015662.3

p.P1025A

c.3073C>G

1 paper

NM_015662.3

p.K1037_E1038ins1

c.3109_3113ins3

1 paper

NM_015662.3

p.K1037_E1038Splc

c.3111+1G>T

1 paper

NM_015662.3

p.K1022K

c.3066G>A

1 paper

NM_015662.3

p.R1018H

c.3053G>A

1 paper

NM_015662.3

p.D1015N

c.3043G>A

5 papers

NM_015662.3

p.K1037_E1038Splc

c.3112-5T>A

1 paper

NM_015662.3

p.E1042K

c.3124G>A

1 paper

NM_015662.3

p.G1043D

c.3128G>A

1 paper

NM_015662.3

p.E1049A

c.3146A>C

1 paper

NM_015662.3

p.H1051R

c.3152A>G