Varaico: Literature-Extracted Genetic Variants

LRCH4

56 papers

RefSeq Summary

This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Ident...

Pfam Domains

LRR_8aa 70–126UCSCLeucine rich repeat

LRR_8aa 137–194UCSCLeucine rich repeat

CHaa 535–650UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

leucine rich repeats and calponin homology domain containing 4

HGNC Previous Symbol

LRN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002319.5

p.E35A

c.104A>C

Surrounding Variants

2 papers

NM_002319.5

p.E39K

c.115G>A

2 papers

NM_002319.5

p.V42M

c.124G>A

1 paper

NM_002319.5

p.S25F

c.74C>T

1 paper

NM_002319.5

p.R53C

c.157C>T

1 paper

NM_002319.5

p.F57S

c.170T>C

1 paper

NM_002319.5

p.D66N

c.196G>A

1 paper

NM_002319.5

p.A3V

c.8C>T

1 paper

NM_002319.5

p.D74Splc

c.220+1272A>C

1 paper

NM_002319.5

p.S76insFs

c.226_227insA

1 paper

NM_002319.5

p.L96R

c.287T>G

1 paper

NM_002319.5

p.R123*

c.367C>T

1 paper

NM_002319.5

p.L126L

c.376C>T