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_001105513.3

p.D941Splc

c.2822-2A>C

Surrounding Variants

1 paper

NM_001366900.1

p.H988Y

c.2962C>T

1 paper

NM_001366900.1

p.N1024N

c.3072T>C

1 paper

NM_145755.3

p.W1039Splc

c.3116+5G>T

1 paper

NM_001366900.1

p.A1040D

c.3119C>A

1 paper

NM_001366900.1

p.A1047E

c.3140C>A

1 paper

NM_001366900.1

p.D1069_N1070insAC

c.3205_3209ins6

1 paper

NM_001366900.1

p.G1082R

c.3244G>A

1 paper

NM_001366900.1

p.G1082R

c.3244G>C

1 paper

NM_001366900.1

p.R1106delFs

c.3317delG

1 paper

NM_001366900.1

p.L1125L

c.3375C>A

1 paper

NM_001366900.1

p.E1150Q

c.3448G>C

1 paper

NM_001366900.1

p.E1150_K1151Splc

c.3450+21C>T