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

3 papers

NM_020458.4

p.L304R

c.911T>G

Surrounding Variants

4 papers

NM_020458.4

p.L304delFs

c.911delT

2 papers

NM_020458.4

p.L304fs

c.910_911fs

1 paper

NM_020458.4

p.Y300C

c.899A>G

1 paper

NM_020458.4

p.E298*

c.892G>T

1 paper

NM_020458.4

p.S296T

c.887G>C

2 papers

NM_020458.4

p.M312T

c.935T>C

1 paper

NM_020458.4

p.G313_E316del4

c.937_947del12

2 papers

NM_020458.4

p.L291_L292ins4

c.871_875ins12

2 papers

NM_020458.4

p.A288A

c.864G>A

2 papers

NM_020458.4

p.L324R

c.971T>G

1 paper

NM_020458.4

p.A284S

c.850G>T

4 papers

NM_020458.4

p.R325Q

c.974G>A