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.R610W

c.1828C>T

Surrounding Variants

1 paper

NM_015662.3

p.R610Q

c.1829G>A

1 paper

NM_015662.3

p.F614S

c.1841T>C

1 paper

NM_015662.3

p.A613_E619del7

c.1837_1856del21

1 paper

NM_015662.3

p.T621T

c.1863C>T

1 paper

NM_015662.3

p.L641I

c.1921C>A

1 paper

NM_015662.3

p.H642Y

c.1924C>T

1 paper

NM_015662.3

p.R610Q

c.1829G>A

1 paper

NM_015662.3

p.N607S

c.1820A>G

1 paper

NM_015662.3

p.A589D

c.1766C>A

1 paper

NM_015662.3

p.T577_V579del3

c.1729_1736del9

4 papers

NM_015662.3

p.R572Q

c.1715G>A

1 paper

NM_015662.3

p.A650T

c.1948G>A