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.G673Splc

c.2018-2A>G

Surrounding Variants

1 paper

NM_020458.4

p.G673Splc

c.2018-3C>T

1 paper

NM_020458.4

p.G673D

c.2018G>A

1 paper

NM_020458.4

p.R676Q

c.2027G>A

6 papers

NM_020458.4

p.S678*

c.2033C>A

1 paper

NM_020458.4

p.E687D

c.2061G>C

1 paper

NM_020458.4

p.E687D

c.2061G>T

2 papers

NM_020458.4

p.M694V

c.2080A>G

1 paper

NM_020458.4

p.M694T

c.2081T>C

3 papers

NM_020458.4

p.S696P

c.2086T>C

1 paper

NM_020458.4

p.L710L

c.2128C>T

7 papers

NM_020458.4

p.Q712*

c.2134C>T

1 paper

NM_020458.4

p.Q712H

c.2136G>C