Varaico: Literature-Extracted Genetic Variants

LRRC4C

97 papers

RefSeq Summary

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008...

Pfam Domains

LRR_8aa 100–160UCSCLeucine rich repeat

LRR_1aa 220–242UCSCLeucine Rich Repeat

LRR_8aa 244–302UCSCLeucine rich repeat

I-setaa 354–443UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

leucine rich repeat containing 4C

HGNC Alias Symbols

KIAA1580; NGL-1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 105 variants

5 papers

NM_001258419.2

p.N3T

c.8A>C

5 papers

NM_001258419.2

p.R156Q

c.467G>A

2 papers

NM_001258419.2

p.R295W

c.883C>T

2 papers

NM_001258419.2

p.Y340*

c.1020C>G

2 papers

NM_001258419.2

p.Y340*

c.1020C>A

2 papers

NM_001258419.2

p.A469V

c.1406C>T

2 papers

NM_001258419.2

p.D483N

c.1447G>A

1 paper

NM_001258419.2

p.M1I

c.3G>A

1 paper

NM_001258419.2

p.L2M

c.4T>A

1 paper

NM_001258419.2

p.T6A

c.16A>G

1 paper

NM_001258419.2

p.Q11R

c.32A>G

1 paper

NM_001258419.2

p.G15S

c.43G>A