Varaico: Literature-Extracted Genetic Variants

TTC7A

168 papers

RefSeq Summary

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alt...

Pfam Domains

TTC7_Naa 8–369UCSCTetratricopeptide repeat protein 7 N-terminal

TPR_8aa 711–743UCSCTetratricopeptide repeat

TPR_8aa 779–812UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 7A

HGNC Previous Symbol

TTC7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 234 variants

25 papers

NM_020458.4

p.E71K

c.211G>A

18 papers

NM_020458.4

p.K606R

c.1817A>G

14 papers

NM_020458.4

p.S672P

c.2014T>C

11 papers

NM_020458.4

p.N278Y

c.832A>T

11 papers

NM_020458.4

p.L823P

c.2468T>C

11 papers

NM_020458.4

p.A832T

c.2494G>A

10 papers

NM_020458.4

p.S539L

c.1616C>T

8 papers

NM_020458.4

p.L478P

c.1433T>C

8 papers

NM_020458.4

p.Q526*

c.1576C>T

7 papers

NM_020458.4

p.Y105fs

c.313_314fs

7 papers

NM_020458.4

p.L399P

c.1196T>C

7 papers

NM_020458.4

p.Q712*

c.2134C>T