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.D1605_A1606Splc

c.4816-41C>G

Surrounding Variants

2 papers

NM_015662.3

p.D1605E

c.4815T>G

2 papers

NM_015662.3

p.D1605E

c.4815T>A

1 paper

NM_015662.3

p.E1608Q

c.4822G>C

2 papers

NM_015662.3

p.N1598S

c.4793A>G

2 papers

NM_015662.3

p.L1615P

c.4844T>C

1 paper

NM_015662.3

p.G1614_L1615del2

c.4840_4844del6

1 paper

NM_015662.3

p.T1623I

c.4868C>T

1 paper

NM_015662.3

p.W1589L

c.4766G>T

1 paper

NM_015662.3

p.V1587A

c.4760T>C

1 paper

NM_015662.3

p.V1587I

c.4759G>A

1 paper

NM_015662.3

p.P1626ins0

c.4876_4878dupCCC

1 paper

NM_015662.3

p.K1585_A1586Splc

c.4756-17A>G