Varaico: Literature-Extracted Genetic Variants

Gene:TTC21A
Variant:p.L79F

TTC21A

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.L79F
c.235C>T
Surrounding Variants
1 paper
NM_001366900.1
p.M77V
c.229A>G
1 paper
NM_001366900.1
p.T76S
c.227C>G
1 paper
NM_001366900.1
p.T76S
c.226A>T
1 paper
NM_001366900.1
p.V71delFs
c.211delG
1 paper
NM_001366900.1
p.P69S
c.205C>T
1 paper
NM_001366900.1
p.D90Splc
c.269-94C>G
3 papers
NM_001366900.1
p.R91Q
c.272G>A
1 paper
NM_001366900.1
p.L101insFs
c.302dupT
1 paper
NM_001366900.1
p.S109R
c.327T>A
1 paper
NM_001366900.1
p.A112delFs
c.335_336delCA
2 papers
NM_001366900.1
p.Y114C
c.341A>G
1 paper
NM_001366900.1
p.L118F
c.352C>T
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