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.S400P

c.1198T>C

Surrounding Variants

7 papers

NM_020458.4

p.L399P

c.1196T>C

1 paper

NM_020458.4

p.E401_C402Splc

c.1203+3A>G

1 paper

NM_020458.4

p.T389M

c.1166C>T

1 paper

NM_020458.4

p.A381S

c.1141G>T

3 papers

NM_020458.4

p.Q377E

c.1129C>G

1 paper

NM_020458.4

p.V365M

c.1093G>A

1 paper

NM_020458.4

p.T357S

c.1070C>G

1 paper

NM_020458.4

p.T357S

c.1069A>T

1 paper

NM_020458.4

p.M355_A356Splc

c.1066-2A>C

4 papers

NM_020458.4

p.E401_C402Splc

c.1204-2A>G

1 paper

NM_020458.4

p.R405*

c.1213C>T

2 papers

NM_020458.4

p.Y418*

c.1254C>G