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

5 papers

NM_032531.4

p.R40W

c.118C>T

Surrounding Variants

1 paper

NM_032531.4

p.A35T

c.103G>A

1 paper

NM_032531.4

p.M34I

c.102G>T

1 paper

NM_032531.4

p.M34I

c.102G>C

1 paper

NM_032531.4

p.M34I

c.102G>A

1 paper

NM_032531.4

p.Y33C

c.98A>G

2 papers

NM_032531.4

p.V30M

c.88G>A

1 paper

NM_032531.4

p.L20Q

c.59T>A