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.A832_V833delFs

c.2496_2497delCG

Surrounding Variants

2 papers

NM_020458.4

p.A832V

c.2495C>T

11 papers

NM_020458.4

p.A832T

c.2494G>A

1 paper

NM_020458.4

p.A832fs

c.2494_2495fs

1 paper

NM_001288951.2

p.V857F

c.2569G>T

1 paper

NM_020458.4

p.F836I

c.2506T>A

5 papers

NM_020458.4

p.Q828*

c.2482C>T

5 papers

NM_020458.4

p.A839T

c.2515G>A

NM_001288951.2

p.A863T

c.2587G>A

1 paper

NM_020458.4

p.Q824fs

c.2470_2471fs

1 paper

NM_020458.4

p.Q824insFs

c.2470dupC

1 paper

NM_020458.4

p.E841*

c.2521G>T

11 papers

NM_020458.4

p.L823P

c.2468T>C

1 paper

NM_020458.4

p.S845N

c.2534G>A