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.R712delFs

c.2134delC

Surrounding Variants

1 paper

NM_001366900.1

p.R712C

c.2134C>T

1 paper

NM_001366900.1

p.Q699*

c.2095C>T

1 paper

NM_001105513.3

p.E650E

c.1950G>A

1 paper

NM_001366900.1

p.E688K

c.2062G>A

1 paper

NM_001366900.1

p.M687insFs

c.2061dupG

1 paper

NM_001366900.1

p.L673P

c.2018T>C

1 paper

NM_001366900.1

p.K666R

c.1997A>G

2 papers

NM_145755.3

p.N666S

c.1997A>G

NM_001366900.1

p.N659S

c.1976A>G

1 paper

NM_001366900.1

p.T636N

c.1907C>A

1 paper

NM_001366900.1

p.T636S

c.1906A>T

1 paper

NM_001366900.1

p.E631E

c.1893G>A

1 paper

NM_001366900.1

p.L622L

c.1864C>T