Varaico: Literature-Extracted Genetic Variants

Gene:LRRC4C
Variant:p.A320A

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.A320A
c.960C>G
Surrounding Variants
1 paper
NM_001258419.2
p.M319I
c.957G>T
1 paper
NM_001258419.2
p.M319I
c.957G>C
1 paper
NM_001258419.2
p.M319I
c.957G>A
1 paper
NM_001258419.2
p.S322S
c.966G>A
1 paper
NM_001258419.2
p.A325V
c.974C>T
1 paper
NM_001258419.2
p.W311C
c.933G>T
1 paper
NM_001258419.2
p.N331S
c.992A>G
1 paper
NM_001258419.2
p.N301K
c.903C>G
1 paper
NM_001258419.2
p.N301K
c.903C>A
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.R295W
c.883C>T
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