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.R333Q

c.998G>A

Surrounding Variants

1 paper

NM_002319.5

p.R336delFs

c.1006_1007delCG

1 paper

NM_002319.5

p.P338S

c.1012C>T

1 paper

NM_002319.5

p.G337delFs

c.1011delT

1 paper

NM_002319.5

p.S325L

c.974C>T

1 paper

NM_002319.5

p.G349R

c.1045G>C

1 paper

NM_002319.5

p.G349R

c.1045G>A

1 paper

NM_002319.5

p.V352L

c.1054G>T

1 paper

NM_002319.5

p.V352L

c.1054G>C

1 paper

NM_002319.5

p.I354T

c.1061T>C

1 paper

NM_002319.5

p.E372_E373Splc

c.1117-1G>A

1 paper

NM_002319.5

p.E373K

c.1117G>A

1 paper

NM_002319.5

p.W312G

c.934T>G