Varaico: Literature-Extracted Genetic Variants

TTC21B

285 papers

RefSeq Summary

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar...

Pfam Domains

ARM_TT21_Naa 10–232UCSCTetratricopeptide repeat protein 21 N-terminal ARM repeat

TPR_19aa 503–572UCSCTetratricopeptide repeat

TPR_8aa 722–755UCSCTetratricopeptide repeat

ARM_TT21_4thaa 758–911UCSCTetratricopeptide repeat protein 21 forth ARM domain

ARM_TT21_5thaa 952–1068UCSCTT21 fifth ARM repeats domain

TPR_7aa 1199–1231UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 21B

HGNC Alias Symbols

FLJ11457; JBTS11; NPHP12; IFT139B; THM1; FAP60; FLA17; IFT139; CFAP60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024753.5

p.M280V

c.838A>G

Surrounding Variants

1 paper

NM_024753.5

p.Q283E

c.847C>G

9 papers

NM_024753.5

p.T276A

c.826A>G

2 papers

NM_024753.5

p.Q286L

c.857A>T

1 paper

NM_024753.5

p.S267_T268ins4

c.799_803ins12

1 paper

NM_024753.5

p.S267T

c.799T>A

3 papers

NM_024753.5

p.A294S

c.880G>T

1 paper

NM_024753.5

p.T298_C299Splc

c.894+1G>A

1 paper

NM_024753.5

p.K265_A266Splc

c.795+2T>A

1 paper

NM_024753.5

p.K265_A266insFs

c.795_796ins4

1 paper

NM_024753.5

p.D262V

c.785A>T

1 paper

NM_024753.5

p.Y256F

c.767A>T

1 paper

NM_024753.5

p.Y255C

c.764A>G