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.R411G

c.1231C>G

Surrounding Variants

7 papers

NM_024753.5

p.R411*

c.1231C>T

1 paper

NM_024753.5

p.Q412R

c.1235A>G

1 paper

NM_024753.5

p.E414*

c.1240G>T

1 paper

NM_024753.5

p.V403fs

c.1207_1208fs

1 paper

NM_024753.5

p.A402delFs

c.1206delT

1 paper

NM_024753.5

p.D424E

c.1272C>G

1 paper

NM_024753.5

p.D424E

c.1272C>A

9 papers

NM_024753.5

p.H426D

c.1276C>G

1 paper

NM_024753.5

p.L435F

c.1303C>T

1 paper

NM_024753.5

p.Y439*

c.1317T>G

1 paper

NM_024753.5

p.Y439*

c.1317T>A

2 papers

NM_024753.5

p.F440fs

c.1318_1319fs