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

1 paper

NM_199180.4

p.G180V

c.539G>T

Surrounding Variants

1 paper

NM_199180.4

p.A200D

c.599C>A

1 paper

NM_199180.4

p.F202delFs

c.606delT

1 paper

NM_199180.4

p.V121I

c.361G>A

1 paper

NM_199180.4

p.N83fs

c.247_248fs

1 paper

NM_199180.4

p.A271D

c.812C>A

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.A81T

c.241G>A

2 papers

NM_199180.4

p.G79R

c.235G>A

1 paper

NM_199180.4

p.G79R

c.235G>C

1 paper

NM_199180.4

p.A280V

c.839C>T

1 paper

NM_199180.4

p.A282T

c.844G>A