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.R1134fs

c.3400_3401fs

Surrounding Variants

2 papers

NM_015662.3

p.R1134W

c.3400C>T

4 papers

NM_015662.3

p.R1134L

c.3401G>T

1 paper

NM_015662.3

p.R1134Q

c.3401G>A

1 paper

NM_015662.3

p.S1133_R1134delFs

c.3399_3400delGA

1 paper

NM_015662.3

p.P1142delFs

c.3426delG

1 paper

NM_015662.3

p.E1143fs

c.3427_3428fs

3 papers

NM_015662.3

p.H1145Q

c.3435T>G

2 papers

NM_015662.3

p.H1145Q

c.3435T>A

1 paper

NM_015662.3

p.A1149S

c.3445G>T

1 paper

NM_015662.3

p.E1153G

c.3458A>G

1 paper

NM_015662.3

p.D1154N

c.3460G>A

1 paper

NM_015662.3

p.G1156G

c.3468T>C