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.R515Q

c.1544G>A

Surrounding Variants

1 paper

NM_020458.4

p.D511G

c.1532A>G

1 paper

NM_020458.4

p.Q510*

c.1528C>T

1 paper

NM_020458.4

p.E522insFs

c.1564_1565insT

2 papers

NM_020458.4

p.A524V

c.1571C>T

8 papers

NM_020458.4

p.Q526*

c.1576C>T

2 papers

NM_020458.4

p.Q526P

c.1577A>C

1 paper

NM_020458.4

p.Q533H

c.1599G>C

1 paper

NM_020458.4

p.Q533H

c.1599G>T

6 papers

NM_020458.4

p.V538L

c.1612G>C

10 papers

NM_020458.4

p.S539L

c.1616C>T

1 paper

NM_020458.4

p.R546*

c.1636C>T

4 papers

NM_020458.4

p.A504Splc

c.1510+105T>A