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.V1202A

c.3605T>C

Surrounding Variants

1 paper

NM_015662.3

p.V1204L

c.3610G>T

1 paper

NM_015662.3

p.V1204L

c.3610G>C

2 papers

NM_015662.3

p.A1200T

c.3598G>A

1 paper

NM_015662.3

p.A1210insFs

c.3628_3629insG

1 paper

NM_015662.3

p.H1194N

c.3580C>A

1 paper

NM_015662.3

p.E1192G

c.3575A>G

1 paper

NM_015662.3

p.A1191T

c.3571G>A

1 paper

NM_015662.3

p.E1220K

c.3658G>A

1 paper

NM_015662.3

p.L1224L

c.3672C>T

2 papers

NM_015662.3

p.R1225Q

c.3674G>A

1 paper

NM_015662.3

p.A1226S

c.3676G>T

1 paper

NM_015662.3

p.P1229S

c.3685C>T