Varaico: Literature-Extracted Genetic Variants

LRIT3

62 papers

RefSeq Summary

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. Th...

Pfam Domains

LRR_8aa 59–117UCSCLeucine rich repeat

LRR_8aa 129–181UCSCLeucine rich repeat

Ig_3aa 253–332UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leucine rich repeat, Ig-like and transmembrane domains 3

HGNC Alias Symbols

FLJ44691; FIGLER4; CSNB1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_198506.5

p.R440*

c.1318C>T

Surrounding Variants

1 paper

NM_198506.5

p.R440P

c.1319G>C

1 paper

NM_198506.5

p.T434I

c.1301C>T

1 paper

NM_198506.5

p.Q446*

c.1336C>T

1 paper

NM_198506.5

p.K456delFs

c.1368delG

1 paper

NM_198506.5

p.P414_S417del4

c.1240_1250del12

1 paper

NM_198506.5

p.S467insFs

c.1399_1400insGA

1 paper

NM_198506.5

p.K468E

c.1402A>G

1 paper

NM_198506.5

p.S406P

c.1216T>C

1 paper

NM_198506.5

p.L402del1

c.1204_1205delTTG

1 paper

NM_198506.5

p.T401_L402del1

c.1203_1205delTTT

1 paper

NM_198506.5

p.T483fs

c.1447_1448fs

1 paper

NM_198506.5

p.T483insFs

c.1449dupA