Varaico: Literature-Extracted Genetic Variants

IFT140

358 papers

RefSeq Summary

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary ciliu...

Pfam Domains

Beta-prop_IFT140_1staa 2–407UCSCIFT140 first beta-propeller

Beta-prop_IFT140_2ndaa 415–733UCSCIFT140 second beta-propeller

TPR_IF140-IFT172aa 786–1272UCSCIF140/IFT172 TPR domain

TPR_IF140_Caa 1280–1403UCSCIF140 C-terminal TPR domain

Gene Aliases

HGNC Name

intraflagellar transport 140

HGNC Previous Symbol

WDTC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014714.4

p.R307*

c.919C>T

Surrounding Variants

1 paper

NM_014714.4

p.G308delFs

c.924delT

1 paper

NM_014714.4

p.E309D

c.927G>T

1 paper

NM_014714.4

p.E309D

c.927G>C

1 paper

NM_014714.4

p.G308_E309del2

c.922_926del6

8 papers

NM_014714.4

p.Y311C

c.932A>G

1 paper

NM_014714.4

p.Y311fs

c.931_932fs

2 papers

NM_014714.4

p.L313L

c.939G>A

1 paper

NM_014714.4

p.P315L

c.944C>T

1 paper

NM_014714.4

p.P315delFs

c.943delG

1 paper

NM_014714.4

p.F319insFs

c.956dupT

1 paper

NM_014714.4

p.F321C

c.962T>G

1 paper

NM_014714.4

p.E325V

c.974A>T