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

2 papers

NM_024753.5

p.Q516*

c.1546C>T

Surrounding Variants

1 paper

NM_024753.5

p.Q516K

c.1546C>A

13 papers

NM_024753.5

p.C518R

c.1552T>C

1 paper

NM_024753.5

p.E520K

c.1558G>A

2 papers

NM_024753.5

p.E509*

c.1525G>T

1 paper

NM_024753.5

p.P523S

c.1567C>T

1 paper

NM_024753.5

p.L531_L532del1

c.1593_1595delAGC

1 paper

NM_024753.5

p.L532del1

c.1594_1595delTAG

1 paper

NM_024753.5

p.Q547E

c.1639C>G

1 paper

NM_024753.5

p.E550E

c.1650A>G

2 papers

NM_024753.5

p.C552fs

c.1654_1655fs

4 papers

NM_024753.5

p.C552*

c.1656T>A

2 papers

NM_024753.5

p.C552_L553delFs

c.1656_1659del4