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.K157E

c.469A>G

Surrounding Variants

1 paper

NM_024753.5

p.D152A

c.455A>C

1 paper

NM_024753.5

p.W150*

c.450G>A

6 papers

NM_024753.5

p.W150R

c.448T>C

6 papers

NM_024753.5

p.W150R

c.448T>A

2 papers

NM_024753.5

p.K166fs

c.496_497fs

2 papers

NM_024753.5

p.K166delFs

c.497delT

1 paper

NM_024753.5

p.G171R

c.511G>C

2 papers

NM_024753.5

p.G171R

c.511G>A

1 paper

NM_024753.5

p.Q143_G144Splc

c.430-3C>G

2 papers

NM_024753.5

p.D177fs

c.529_530fs

1 paper

NM_024753.5

p.D177delFs

c.530delT

1 paper

NM_024753.5

p.T178S

c.532A>T