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.D680G

c.2039A>G

Surrounding Variants

1 paper

NM_015662.3

p.F681L

c.2041T>C

1 paper

NM_015662.3

p.F681L

c.2043T>G

1 paper

NM_015662.3

p.F681L

c.2043T>A

1 paper

NM_015662.3

p.G676R

c.2026G>C

1 paper

NM_015662.3

p.G676R

c.2026G>A

2 papers

NM_015662.3

p.R685*

c.2053C>T

1 paper

NM_015662.3

p.M690fs

c.2068_2069fs

1 paper

NM_015662.3

p.M690delFs

c.2070delC

1 paper

NM_015662.3

p.A698S

c.2092G>T

3 papers

NM_015662.3

p.R672Q

c.2015G>A

1 paper

NM_015662.3

p.A667V

c.2000C>T

1 paper

NM_015662.3

p.E665delins

c.1993_1994delinsAT