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.I1537M

c.4611C>G

Surrounding Variants

2 papers

NM_015662.3

p.L1536P

c.4607T>C

6 papers

NM_015662.3

p.R1544C

c.4630C>T

1 paper

NM_015662.3

p.E1522K

c.4564G>A

2 papers

NM_015662.3

p.L1513_C1514Splc

c.4540-5T>A

1 paper

NM_015662.3

p.L1513_C1514Splc

c.4540-6C>T

1 paper

NM_015662.3

p.L1510F

c.4528C>T

1 paper

NM_015662.3

p.R1507*

c.4519C>T

1 paper

NM_015662.3

p.Y1500C

c.4499A>G

1 paper

NM_015662.3

p.F1485Y

c.4454T>A

2 papers

NM_015662.3

p.R1483S

c.4449G>T

2 papers

NM_015662.3

p.R1483S

c.4449G>C

5 papers

NM_015662.3

p.L1564P

c.4691T>C