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

4 papers

NM_015662.3

p.R1303*

c.3907C>T

Surrounding Variants

1 paper

NM_015662.3

p.S1305S

c.3915T>A

1 paper

NM_015662.3

p.Y1299H

c.3895T>C

1 paper

NM_015662.3

p.C1298*

c.3894C>A

2 papers

NM_015662.3

p.G1309S

c.3925G>A

1 paper

NM_015662.3

p.A1311V

c.3932C>T

1 paper

NM_015662.3

p.R1294C

c.3880C>T

1 paper

NM_015662.3

p.E1312D

c.3936G>T

1 paper

NM_015662.3

p.E1312D

c.3936G>C

1 paper

NM_015662.3

p.A1289D

c.3866C>A

1 paper

NM_015662.3

p.Q1288H

c.3864G>T

1 paper

NM_015662.3

p.Q1288H

c.3864G>C

1 paper

NM_015662.3

p.E1287K

c.3859G>A