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.A393V

c.1178C>T

Surrounding Variants

6 papers

NM_032531.4

p.A393T

c.1177G>A

2 papers

NM_032531.4

p.V397A

c.1190T>C

2 papers

NM_032531.4

p.R389H

c.1166G>A

1 paper

NM_032531.4

p.C398F

c.1193G>T

1 paper

NM_032531.4

p.E380K

c.1138G>A

3 papers

NM_032531.4

p.E411Q

c.1231G>C

3 papers

NM_032531.4

p.T413I

c.1238C>T

1 paper

NM_032531.4

p.V416I

c.1246G>A

1 paper

NM_032531.4

p.G418Splc

c.1252+99T>C

1 paper

NM_032531.4

p.I366V

c.1096A>G

1 paper

NM_032531.4

p.G360S

c.1078G>A

2 papers

NM_032531.4

p.W358C

c.1074G>T