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.I209N

c.626T>A

Surrounding Variants

2 papers

NM_198506.5

p.F204fs

c.610_611fs

2 papers

NM_198506.5

p.W203L

c.608G>T

1 paper

NM_198506.5

p.A222T

c.664G>A

1 paper

NM_198506.5

p.G240delFs

c.718delG

1 paper

NM_198506.5

p.G240_I241insFs

c.720_721insG

1 paper

NM_198506.5

p.A266Fs

c.796_797delinsGAACTTFs

2 papers

NM_198506.5

p.C275Y

c.824G>A

1 paper

NM_198506.5

p.P283insFs

c.848_849insAT

1 paper

NM_198506.5

p.I285S

c.854T>G

1 paper

NM_198506.5

p.Q301_E302insFs

c.903_904insG

1 paper

NM_198506.5

p.R309K

c.926G>A

1 paper

NM_198506.5

p.R309R

c.927A>G