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

4 papers

NM_024753.5

p.Q667*

c.1999C>T

Surrounding Variants

1 paper

NM_024753.5

p.A666G

c.1997C>G

1 paper

NM_024753.5

p.H645R

c.1934A>G

1 paper

NM_024753.5

p.D704Y

c.2110G>T

1 paper

NM_024753.5

p.R723W

c.2167C>T

1 paper

NM_024753.5

p.S724T

c.2170T>A

1 paper

NM_024753.5

p.F725F

c.2175T>C

1 paper

NM_024753.5

p.L726insFs

c.2176dupC

1 paper

NM_024753.5

p.L726fs

c.2176_2177fs

6 papers

NM_024753.5

p.E737_P738Splc

c.2211+3A>G

1 paper

NM_024753.5

p.Q633*

c.1897C>T

1 paper

NM_024753.5

p.G631E

c.1892G>A

1 paper

NM_024753.5

p.R628H

c.1883G>A