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.I552T

c.1655T>C

Surrounding Variants

1 paper

NM_015662.3

p.V558fs

c.1672_1673fs

2 papers

NM_015662.3

p.R557_V558insFs

c.1671_1672dupAG

1 paper

NM_015662.3

p.V558fs

c.1672_1673fs

1 paper

NM_015662.3

p.M560V

c.1678A>G

1 paper

NM_015662.3

p.R543*

c.1627C>T

3 papers

NM_015662.3

p.T562S

c.1684A>T

3 papers

NM_015662.3

p.T562S

c.1685C>G

1 paper

NM_015662.3

p.I563T

c.1688T>C

1 paper

NM_015662.3

p.W531*

c.1592G>A

1 paper

NM_015662.3

p.M529I

c.1587G>T

1 paper

NM_015662.3

p.M529I

c.1587G>C

1 paper

NM_015662.3

p.M529I

c.1587G>A