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

5 papers

NM_198506.5

p.S513fs

c.1537_1538fs

Surrounding Variants

5 papers

NM_198506.5

p.S513delFs

c.1538_1539delCT

3 papers

NM_198506.5

p.S494T

c.1481G>C

1 paper

NM_198506.5

p.A486T

c.1456G>A

1 paper

NM_198506.5

p.A485A

c.1455C>T

1 paper

NM_198506.5

p.I541V

c.1621A>G

1 paper

NM_198506.5

p.T483insFs

c.1449dupA

1 paper

NM_198506.5

p.T483fs

c.1447_1448fs

2 papers

NM_198506.5

p.G547D

c.1640G>A

1 paper

NM_198506.5

p.C553F

c.1658G>T

1 paper

NM_198506.5

p.K468E

c.1402A>G

1 paper

NM_198506.5

p.S467insFs

c.1399_1400insGA

1 paper

NM_198506.5

p.K456delFs

c.1368delG