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

1–12 of 133 variants

3 papers

NM_001366900.1

p.M1delFs

c.2delT

3 papers

NM_001366900.1

p.R91Q

c.272G>A

3 papers

NM_001366900.1

p.R239Splc

c.716+1G>A

2 papers

NM_001366900.1

p.Y114C

c.341A>G

2 papers

NM_001366900.1

p.E397K

c.1189G>A

2 papers

NM_001366900.1

p.K577E

c.1729A>G

2 papers

NM_001366900.1

p.A855delFs

c.2563delG

1 paper

NM_001366900.1

p.M1insFs

c.2dupT

1 paper

NM_001366900.1

p.M1T

c.2T>C

1 paper

NM_001366900.1

p.M1insFs

c.3dupG

1 paper

NM_001366900.1

p.K19E

c.55A>G

1 paper

NM_001366900.1

p.H23Y

c.67C>T