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

1–12 of 296 variants

47 papers

NM_024753.5

p.P209L

c.626C>T

13 papers

NM_024753.5

p.C518R

c.1552T>C

11 papers

NM_024753.5

p.V201M

c.601G>A

9 papers

NM_024753.5

p.T276A

c.826A>G

9 papers

NM_024753.5

p.H426D

c.1276C>G

7 papers

NM_024753.5

p.R411*

c.1231C>T

7 papers

NM_024753.5

p.L795P

c.2384T>C

6 papers

NM_024753.5

p.I92I

c.276T>A

6 papers

NM_024753.5

p.W150R

c.448T>C

6 papers

NM_024753.5

p.W150R

c.448T>A

6 papers

NM_024753.5

p.R616C

c.1846C>T

6 papers

NM_024753.5

p.E737_P738Splc

c.2211+3A>G