Varaico: Literature-Extracted Genetic Variants

TTC7B

14q32.11 (UCSC)OMIM GTEx

49 papers

Pfam Domains

TTC7_Naa 1–386UCSCTetratricopeptide repeat protein 7 N-terminal

TPR_8aa 397–430UCSCTetratricopeptide repeat

ANAPC3aa 494–575UCSCAnaphase-promoting complex, cyclosome, subunit 3

TPR_12aa 728–795UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 7B

HGNC Previous Symbol

TTC7L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010854.2

p.A116V

c.347C>T

Surrounding Variants

1 paper

NM_001010854.2

p.N107Y

c.319A>T

2 papers

NM_001010854.2

p.L106F

c.318G>T

2 papers

NM_001010854.2

p.L106F

c.318G>C

1 paper

NM_001010854.2

p.D126D

c.378C>T

1 paper

NM_001010854.2

p.K92_S93Splc

c.277-6T>C

1 paper

NM_001010854.2

p.N90K

c.270C>G

1 paper

NM_001010854.2

p.N90K

c.270C>A