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.L402del1

c.1204_1205delTTG

Surrounding Variants

1 paper

NM_198506.5

p.T401_L402del1

c.1203_1205delTTT

1 paper

NM_198506.5

p.S406P

c.1216T>C

1 paper

NM_198506.5

p.P414_S417del4

c.1240_1250del12

1 paper

NM_198506.5

p.W387C

c.1161G>C

1 paper

NM_198506.5

p.W387C

c.1161G>T

1 paper

NM_198506.5

p.W387R

c.1159T>C

1 paper

NM_198506.5

p.W387G

c.1159T>G

5 papers

NM_198506.5

p.S384*

c.1151C>A

7 papers

NM_198506.5

p.S384*

c.1151C>G

1 paper

NM_198506.5

p.S384L

c.1151C>T

1 paper

NM_198506.5

p.S381_Y385delFs

c.1143_1155del13

1 paper

NM_198506.5

p.T434I

c.1301C>T