Varaico: Literature-Extracted Genetic Variants

Gene:LRRC4C
Variant:p.L179F

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.L179F
c.537A>T
Surrounding Variants
1 paper
NM_001258419.2
p.L179F
c.537A>C
1 paper
NM_001258419.2
p.R175C
c.523C>T
1 paper
NM_001258419.2
p.L174W
c.521T>G
1 paper
NM_001258419.2
p.S186P
c.556T>C
1 paper
NM_001258419.2
p.S173F
c.518C>T
1 paper
NM_001258419.2
p.S165Y
c.494C>A
1 paper
NM_001258419.2
p.L196M
c.586C>A
1 paper
NM_001258419.2
p.L202*
c.605T>A
5 papers
NM_001258419.2
p.R156Q
c.467G>A
1 paper
NM_001258419.2
p.R156*
c.466C>T
1 paper
NM_001258419.2
p.N208H
c.622A>C
1 paper
NM_001258419.2
p.R210W
c.628C>T
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