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

47 papers

NM_024753.5

p.P209L

c.626C>T

Surrounding Variants

1 paper

NM_024753.5

p.Q203_I204insFs

c.609_610insC

11 papers

NM_024753.5

p.V201M

c.601G>A

1 paper

NM_024753.5

p.E199A

c.596A>C

1 paper

NM_024753.5

p.K220T

c.659A>C

1 paper

NM_024753.5

p.G196A

c.587G>C

2 papers

NM_024753.5

p.Q222L

c.665A>T

1 paper

NM_024753.5

p.L223V

c.667C>G

1 paper

NM_024753.5

p.R191C

c.571C>T

4 papers

NM_024753.5

p.T231S

c.691A>T

1 paper

NM_024753.5

p.K184_A185Splc

c.553-2A>T

1 paper

NM_024753.5

p.A235T

c.703G>A

1 paper

NM_024753.5

p.G183A

c.548G>C