Varaico: Literature-Extracted Genetic Variants

TSPEAR

134 papers

RefSeq Summary

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of auto...

Pfam Domains

EPTPaa 360–407UCSCEPTP domain

EPTPaa 412–459UCSCEPTP domain

EPTPaa 464–510UCSCEPTP domain

EPTPaa 514–569UCSCEPTP domain

Gene Aliases

HGNC Name

thrombospondin type laminin G domain and EAR repeats

HGNC Previous Symbols

C21orf29; DFNB98

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_144991.3

p.K502delFs

c.1505delT

Surrounding Variants

2 papers

NM_144991.3

p.K502fs

c.1504_1505fs

3 papers

NM_144991.3

p.K502fs

c.1504_1505fs

1 paper

NM_144991.3

p.G498V

c.1493G>T

1 paper

NM_144991.3

p.Y508delFs

c.1524delG

5 papers

NM_144991.3

p.R510*

c.1528C>T

2 papers

NM_001272037.2

p.L444L

c.1330C>T

2 papers

NM_144991.3

p.L490Q

c.1469T>A

2 papers

NM_144991.3

p.S488L

c.1463C>T

2 papers

NM_144991.3

p.P522P

c.1566G>A

NM_001272037.2

p.P454P

c.1362G>A

1 paper

NM_144991.3

p.P522delFs

c.1564delG

1 paper

NM_144991.3

p.P522_T523Splc

c.1566+5G>A

2 papers

NM_144991.3

p.G475R

c.1423G>C