Varaico: Literature-Extracted Genetic Variants

TTC21A

3p22.2 (UCSC)OMIM GTEx

59 papers

Pfam Domains

ARM_TT21_Naa 12–234UCSCTetratricopeptide repeat protein 21 N-terminal ARM repeat

ARM_TT21_2ndaa 278–549UCSCTetratricopeptide repeat protein 21 second ARM domain

ARM_TT21aa 566–721UCSCTetratricopeptide repeat protein 21 ARM repeat

ARM_TT21_4thaa 764–916UCSCTetratricopeptide repeat protein 21 forth ARM domain

ARM_TT21_5thaa 957–1073UCSCTT21 fifth ARM repeats domain

ARM_TT21_Caa 1107–1315UCSCTetratricopeptide repeat protein 21 C-terminal ARM domain

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 21A

HGNC Alias Symbols

STI2; IFT139A; Thm2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366900.1

p.V180V

c.540G>T

Surrounding Variants

1 paper

NM_001366900.1

p.I174V

c.520A>G

1 paper

NM_001366900.1

p.Y169*

c.507C>A

1 paper

NM_001366900.1

p.E145_A146Splc

c.436-2A>G

1 paper

NM_001366900.1

p.E145G

c.434A>G

1 paper

NM_001366900.1

p.F143_E145del3

c.427_434del9

1 paper

NM_001366900.1

p.Y132*

c.396C>A

1 paper

NM_001366900.1

p.Y132*

c.396C>G

1 paper

NM_001366900.1

p.H126_D127delFs

c.378_379delTG

1 paper

NM_001366900.1

p.R125C

c.373C>T

1 paper

NM_001366900.1

p.L118F

c.352C>T

2 papers

NM_001366900.1

p.Y114C

c.341A>G

1 paper

NM_001366900.1

p.A112delFs

c.335_336delCA