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

1 paper

NM_198506.5

p.Y90insFs

c.269dupA

Surrounding Variants

1 paper

NM_198506.5

p.Y90*

c.270C>A

1 paper

NM_198506.5

p.Y90*

c.270C>G

1 paper

NM_198506.5

p.V88E

c.263T>A

1 paper

NM_198506.5

p.A94insFs

c.281dupC

1 paper

NM_198506.5

p.S100I

c.299G>T

1 paper

NM_198506.5

p.E109Q

c.325G>C

1 paper

NM_198506.5

p.L117Q

c.350T>A

1 paper

NM_198506.5

p.L117P

c.350T>C

1 paper

NM_198506.5

p.S124insFs

c.371dupC

1 paper

NM_198506.5

p.T53M

c.158C>T

2 papers

NM_198506.5

p.D127Y

c.379G>T

1 paper

NM_198506.5

p.P52S

c.154C>T