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.W310delins

c.928delinsGAAG

Surrounding Variants

1 paper

NM_198506.5

p.R309R

c.927A>G

1 paper

NM_198506.5

p.R309K

c.926G>A

1 paper

NM_198506.5

p.T316I

c.947C>T

1 paper

NM_198506.5

p.Q301_E302insFs

c.903_904insG

1 paper

NM_198506.5

p.I318N

c.953T>A

1 paper

NM_198506.5

p.C328S

c.982T>A

6 papers

NM_198506.5

p.C328Y

c.983G>A

1 paper

NM_198506.5

p.C328S

c.983G>C

1 paper

NM_198506.5

p.K329insFs

c.985_986insC

2 papers

NM_198506.5

p.M336L

c.1006A>C

2 papers

NM_198506.5

p.M336L

c.1006A>T

1 paper

NM_198506.5

p.M336I

c.1008G>A