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

3 papers

NM_015662.3

p.H1567Q

c.4701C>A

Surrounding Variants

3 papers

NM_015662.3

p.H1567Q

c.4701C>G

3 papers

NM_015662.3

p.R1566C

c.4696C>T

5 papers

NM_015662.3

p.L1564P

c.4691T>C

1 paper

NM_015662.3

p.P1572S

c.4714C>T

1 paper

NM_015662.3

p.K1575*

c.4723A>T

1 paper

NM_015662.3

p.Y1578C

c.4733A>G

1 paper

NM_015662.3

p.I1582T

c.4745T>C

1 paper

NM_015662.3

p.K1585_A1586Splc

c.4756-17A>G

1 paper

NM_015662.3

p.V1587I

c.4759G>A

1 paper

NM_015662.3

p.V1587A

c.4760T>C

1 paper

NM_015662.3

p.W1589L

c.4766G>T

2 papers

NM_015662.3

p.N1598S

c.4793A>G