Varaico: Literature-Extracted Genetic Variants

KIRREL2

42 papers

RefSeq Summary

This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells a...

Pfam Domains

I-setaa 24–120UCSCImmunoglobulin I-set domain

C2-set_2aa 126–214UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 312–378UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

kirre like nephrin family adhesion molecule 2

HGNC Alias Symbols

NLG1; NEPH3; FILTRIN; DKFZp564A1164; MGC15718

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_199180.4

p.V353M

c.1057G>A

Surrounding Variants

1 paper

NM_199180.4

p.P339L

c.1016C>T

1 paper

NM_199180.4

p.P408T

c.1222C>A

1 paper

NM_001329530.2

p.R252S

c.754C>A

1 paper

NM_199180.4

p.V289L

c.865G>C

1 paper

NM_199180.4

p.V289L

c.865G>T

1 paper

NM_199180.4

p.V430_V431Splc

c.1290+3A>G

1 paper

NM_199180.4

p.A282T

c.844G>A

1 paper

NM_199180.4

p.A280V

c.839C>T

1 paper

NM_199180.4

p.G273R

c.817G>A

1 paper

NM_199180.4

p.G273R

c.817G>C

1 paper

NM_199180.4

p.A271D

c.812C>A

1 paper

NM_199180.4

p.R458S

c.1372C>A