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

11 papers

NM_020458.4

p.N278Y

c.832A>T

Surrounding Variants

6 papers

NM_020458.4

p.Q277*

c.829C>T

3 papers

NM_020458.4

p.K280I

c.839A>T

1 paper

NM_020458.4

p.V281_M282Splc

c.843+1G>A

1 paper

NM_020458.4

p.R269L

c.806G>T

1 paper

NM_020458.4

p.V267M

c.799G>A

1 paper

NM_020458.4

p.R265Q

c.794G>A

1 paper

NM_020458.4

p.R265W

c.793C>T

2 papers

NM_020458.4

p.N256fs

c.766_767fs

5 papers

NM_020458.4

p.V281_M282Splc

c.844-1G>T

1 paper

NM_020458.4

p.A284S

c.850G>T

2 papers

NM_020458.4

p.A288A

c.864G>A

2 papers

NM_020458.4

p.L291_L292ins4

c.871_875ins12