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.N104Y

c.310A>T

Surrounding Variants

1 paper

NM_020458.4

p.Y105_L106delFs

c.313_316del4

7 papers

NM_020458.4

p.Y105fs

c.313_314fs

3 papers

NM_020458.4

p.Y105*

c.315T>A

3 papers

NM_020458.4

p.Y105*

c.315T>G

1 paper

NM_020458.4

p.S107C

c.319A>T

3 papers

NM_020458.4

p.M99V

c.295A>G

1 paper

NM_020458.4

p.P97L

c.290C>T

2 papers

NM_020458.4

p.P97_K98insFs

c.291_292ins4

1 paper

NM_020458.4

p.R114W

c.340A>T

3 papers

NM_020458.4

p.S116del1

c.346_347delTCG

1 paper

NM_020458.4

p.Q76*

c.226C>T

5 papers

NM_020458.4

p.E75K

c.223G>A