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.M673I

c.2019G>C

Surrounding Variants

4 papers

NM_032531.4

p.M673I

c.2019G>T

4 papers

NM_032531.4

p.M673I

c.2019G>A

1 paper

NM_032531.4

p.S674P

c.2020T>C

1 paper

NM_032531.4

p.M673V

c.2017A>G

2 papers

NM_032531.4

p.R668P

c.2003G>C

3 papers

NM_032531.4

p.R662H

c.1985G>A

1 paper

NM_032531.4

p.G686A

c.2057G>C

1 paper

NM_032531.4

p.R687C

c.2059C>T

1 paper

NM_032531.4

p.R694Q

c.2081G>A

1 paper

NM_032531.4

p.P650P

c.1950G>A

1 paper

NM_032531.4

p.Y638H

c.1912T>C

1 paper

NM_032531.4

p.D728delFs

c.2184delG