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_001366899.1

p.Y773*

c.2319T>A

Surrounding Variants

1 paper

NM_001366899.1

p.Y773*

c.2319T>G

1 paper

NM_001366900.1

p.G762_H763delFs

c.2286_2287delGC

1 paper

NM_145755.3

p.Q777*

c.2329C>T

1 paper

NM_001366900.1

p.E736_P737Splc

c.2208+34C>T

1 paper

NM_001366899.1

p.R720Splc

c.2160-1G>T

1 paper

NM_001105513.3

p.E732_A733Splc

c.2197-2A>G

1 paper

NM_001366900.1

p.K809N

c.2427A>C

1 paper

NM_001366900.1

p.K809N

c.2427A>T

1 paper

NM_001366900.1

p.N828T

c.2483A>C

1 paper

NM_145755.3

p.K845delFs

c.2534delA

1 paper

NM_145755.3

p.K845fs

c.2533_2534fs

1 paper

NM_001105513.3

p.E805_N812del8

c.2413_2435del24