Varaico: Literature-Extracted Genetic Variants

Gene:LRRC4C
Variant:p.E637Q

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.E637Q
c.1909G>C
Surrounding Variants
1 paper
NM_001258419.2
p.S631A
c.1891T>G
1 paper
NM_001258419.2
p.V621E
c.1862T>A
1 paper
NM_001258419.2
p.S620A
c.1858T>G
1 paper
NM_001258419.2
p.S600A
c.1798T>G
1 paper
NM_001258419.2
p.H597Q
c.1791C>G
1 paper
NM_001258419.2
p.H597Q
c.1791C>A
1 paper
NM_001258419.2
p.I590V
c.1768A>G
1 paper
NM_001258419.2
p.E582K
c.1744G>A
1 paper
NM_001258419.2
p.M539I
c.1617G>C
1 paper
NM_001258419.2
p.I528V
c.1582A>G
1 paper
NM_001258419.2
p.E521K
c.1561G>A
1 paper
NM_001258419.2
p.S500L
c.1499C>T
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