Varaico: Literature-Extracted Genetic Variants

KIRREL3

91 papers

RefSeq Summary

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domai...

Pfam Domains

I-setaa 48–145UCSCImmunoglobulin I-set domain

C2-set_2aa 152–236UCSCCD80-like C2-set immunoglobulin domain

I-setaa 335–416UCSCImmunoglobulin I-set domain

Ig_3aa 419–503UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

kirre like nephrin family adhesion molecule 3

HGNC Alias Symbols

NEPH2; KIAA1867; KIRRE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_032531.4

p.P446L

c.1337C>T

Surrounding Variants

1 paper

NM_032531.4

p.I451I

c.1353C>T

1 paper

NM_032531.4

p.Q437H

c.1311G>T

1 paper

NM_032531.4

p.Q437H

c.1311G>C

1 paper

NM_032531.4

p.E434K

c.1300G>A

1 paper

NM_032531.4

p.G433S

c.1297G>A

3 papers

NM_032531.4

p.Q428K

c.1282C>A

2 papers

NM_032531.4

p.Q426*

c.1276C>T

1 paper

NM_032531.4

p.G418Splc

c.1253-1G>A

2 papers

NM_032531.4

p.T469M

c.1406C>T

1 paper

NM_032531.4

p.V479A

c.1436T>C

2 papers

NM_032531.4

p.R490W

c.1468C>T

1 paper

NM_032531.4

p.D492N

c.1474G>A