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.R562L

c.1685G>T

Surrounding Variants

1 paper

NM_032531.4

p.R562C

c.1684C>T

1 paper

NM_032531.4

p.A557T

c.1669G>A

2 papers

NM_032531.4

p.V556M

c.1666G>A

1 paper

NM_001161707.1

p.G572A

c.1715G>C

1 paper

NM_032531.4

p.A547T

c.1639G>A

2 papers

NM_032531.4

p.V542I

c.1624G>A

1 paper

NM_032531.4

p.G539R

c.1615G>C

1 paper

NM_032531.4

p.R578Q

c.1733G>A

1 paper

NM_032531.4

p.I581V

c.1741A>G

1 paper

NM_032531.4

p.T597T

c.1791C>T

1 paper

NM_032531.4

p.E530K

c.1588G>A

3 papers

NM_032531.4

p.K522N

c.1566G>T