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.E373Q

c.1117G>C

Surrounding Variants

1 paper

NM_001366900.1

p.E378_A379del2

c.1132_1136del6

1 paper

NM_001366900.1

p.G365Splc

c.1094-45A>G

2 papers

NM_001366900.1

p.E397K

c.1189G>A

1 paper

NM_001366900.1

p.G365Splc

c.1094-70C>T

1 paper

NM_001366900.1

p.E397_V398Splc

c.1192-80T>C

1 paper

NM_001366900.1

p.L402L

c.1206C>T

1 paper

NM_001105513.3

p.I394F

c.1180A>T

1 paper

NM_001366900.1

p.K455M

c.1364A>T

1 paper

NM_145755.3

p.Q472_P473Splc

c.1416+1G>A

1 paper

NM_001366900.1

p.L476H

c.1427T>A

1 paper

NM_001366900.1

p.G508Splc

c.1522+24G>A

1 paper

NM_001366900.1

p.G508Splc

c.1523-56C>A