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

1–12 of 136 variants

7 papers

NM_032531.4

p.R161H

c.482G>A

7 papers

NM_032531.4

p.R336Q

c.1007G>A

6 papers

NM_032531.4

p.A393T

c.1177G>A

5 papers

NM_032531.4

p.R40W

c.118C>T

5 papers

NM_032531.4

p.R562L

c.1685G>T

5 papers

NM_032531.4

p.V731F

c.2191G>T

4 papers

NM_032531.4

p.R205Q

c.614G>A

4 papers

NM_032531.4

p.A393V

c.1178C>T

4 papers

NM_032531.4

p.P446L

c.1337C>T

4 papers

NM_032531.4

p.M673I

c.2019G>T

4 papers

NM_032531.4

p.M673I

c.2019G>C

4 papers

NM_032531.4

p.M673I

c.2019G>A