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

Selected Variant

1 paper

NM_001258419.2

p.S268*

c.803C>G

Surrounding Variants

1 paper

NM_001258419.2

p.S268*

c.803C>A

1 paper

NM_001258419.2

p.L274R

c.821T>G

1 paper

NM_001258419.2

p.L293P

c.878T>C

2 papers

NM_001258419.2

p.R295W

c.883C>T

1 paper

NM_001258419.2

p.R235K

c.704G>A

1 paper

NM_001258419.2

p.N301K

c.903C>G

1 paper

NM_001258419.2

p.N301K

c.903C>A

1 paper

NM_001258419.2

p.A233V

c.698C>T

1 paper

NM_001258419.2

p.S232F

c.695C>T

1 paper

NM_001258419.2

p.D225A

c.674A>C

1 paper

NM_001258419.2

p.W311C

c.933G>T

1 paper

NM_001258419.2

p.P217L

c.650C>T