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

1–12 of 96 variants

7 papers

NM_198506.5

p.S384*

c.1151C>G

6 papers

NM_198506.5

p.C328Y

c.983G>A

5 papers

NM_198506.5

p.S384*

c.1151C>A

5 papers

NM_198506.5

p.S513delFs

c.1538_1539delCT

5 papers

NM_198506.5

p.S513fs

c.1537_1538fs

4 papers

NM_198506.5

p.R440*

c.1318C>T

3 papers

NM_198506.5

p.S494T

c.1481G>C

3 papers

NM_198506.5

p.C592Y

c.1775G>A

2 papers

NM_198506.5

p.M1V

c.1A>G

2 papers

NM_198506.5

p.D127Y

c.379G>T

2 papers

NM_198506.5

p.W203L

c.608G>T

2 papers

NM_198506.5

p.F204fs

c.610_611fs