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

1 paper

NM_032531.4

p.I190V

c.568A>G

Surrounding Variants

1 paper

NM_032531.4

p.G192R

c.574G>C

1 paper

NM_032531.4

p.G192R

c.574G>A

1 paper

NM_032531.4

p.R185*

c.553C>T

1 paper

NM_032531.4

p.A179D

c.536C>A

2 papers

NM_032531.4

p.H171Q

c.513C>G

2 papers

NM_032531.4

p.H171Q

c.513C>A

1 paper

NM_032531.4

p.T169A

c.505A>G

1 paper

NM_032531.4

p.N167fs

c.499_500fs

1 paper

NM_032531.4

p.D164insFs

c.490_491insA

1 paper

NM_032531.4

p.A162V

c.485C>T

7 papers

NM_032531.4

p.R161H

c.482G>A

1 paper

NM_032531.4

p.R161C

c.481C>T