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.F132delFs

c.394_395delAA

Surrounding Variants

1 paper

NM_001258419.2

p.L131F

c.391C>T

1 paper

NM_001258419.2

p.R135G

c.403C>G

1 paper

NM_001258419.2

p.L136I

c.406C>A

1 paper

NM_001258419.2

p.E116K

c.346G>A

1 paper

NM_001258419.2

p.R113G

c.337A>G

1 paper

NM_001258419.2

p.R156*

c.466C>T

5 papers

NM_001258419.2

p.R156Q

c.467G>A

1 paper

NM_001258419.2

p.R109M

c.326G>T

1 paper

NM_001258419.2

p.S165Y

c.494C>A

1 paper

NM_001258419.2

p.R100G

c.298A>G

1 paper

NM_001258419.2

p.S173F

c.518C>T

1 paper

NM_001258419.2

p.L174W

c.521T>G