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

6 papers

NM_024753.5

p.I92I

c.276T>A

Surrounding Variants

4 papers

NM_024753.5

p.E90*

c.268G>T

4 papers

NM_024753.5

p.D88_R89insFs

c.264_267dup4

1 paper

NM_024753.5

p.R89_E90insFs

c.267_268ins4

1 paper

NM_024753.5

p.D88Y

c.262G>T

1 paper

NM_024753.5

p.R98G

c.292A>G

1 paper

NM_024753.5

p.F117L

c.349T>C

1 paper

NM_024753.5

p.H120_I121ins7

c.358_362ins21

1 paper

NM_024753.5

p.R123C

c.367C>T

1 paper

NM_024753.5

p.R123H

c.368G>A

3 papers

NM_024753.5

p.A127T

c.379G>A

5 papers

NM_024753.5

p.A127V

c.380C>T

1 paper

NM_024753.5

p.D132Y

c.394G>T