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

Selected Variant

1 paper

NM_020458.4

p.L802P

c.2405T>C

Surrounding Variants

1 paper

NM_020458.4

p.V801M

c.2401G>A

1 paper

NM_020458.4

p.A798V

c.2393C>T

2 papers

NM_020458.4

p.T811M

c.2432C>T

2 papers

NM_020458.4

p.G793fs

c.2377_2378fs

2 papers

NM_020458.4

p.G793delFs

c.2378delG

1 paper

NM_020458.4

p.E814K

c.2440G>A

1 paper

NM_020458.4

p.E814A

c.2441A>C

1 paper

NM_020458.4

p.S790N

c.2369G>A

1 paper

NM_020458.4

p.E814E

c.2442G>A

3 papers

NM_001288951.2

p.A839T

c.2515G>A

2 papers

NM_020458.4

p.G786V

c.2357G>T

11 papers

NM_020458.4

p.L823P

c.2468T>C