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

2 papers

NM_015662.3

p.R720C

c.2158C>T

Surrounding Variants

1 paper

NM_015662.3

p.R720fs

c.2158_2159fs

1 paper

NM_015662.3

p.R720H

c.2159G>A

1 paper

NM_015662.3

p.R720delFs

c.2158delG

1 paper

NM_015662.3

p.H719Y

c.2155C>T

1 paper

NM_015662.3

p.Q716*

c.2146C>T

1 paper

NM_015662.3

p.I725insFs

c.2174dupT

1 paper

NM_015662.3

p.A726T

c.2176G>A

1 paper

NM_015662.3

p.Q705_N706Splc

c.2116-1G>A

1 paper

NM_015662.3

p.G732_H733del2

c.2194_2198del6

1 paper

NM_015662.3

p.A735_Y743del9

c.2203_2228del27

1 paper

NM_015662.3

p.Y744C

c.2231A>G

1 paper

NM_015662.3

p.E754G

c.2261A>G