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

2 papers

NM_032531.4

p.G203S

c.607G>A

Surrounding Variants

1 paper

NM_032531.4

p.R201L

c.602G>T

1 paper

NM_032531.4

p.R205W

c.613C>T

4 papers

NM_032531.4

p.R205Q

c.614G>A

1 paper

NM_032531.4

p.S207N

c.620G>A

1 paper

NM_032531.4

p.I208V

c.622A>G

1 paper

NM_032531.4

p.V209I

c.625G>A

1 paper

NM_032531.4

p.F213V

c.637T>G

3 papers

NM_032531.4

p.V219L

c.655G>T

3 papers

NM_032531.4

p.V219L

c.655G>C

1 paper

NM_032531.4

p.Q223Q

c.669G>A

1 paper

NM_032531.4

p.C227F

c.680G>T

1 paper

NM_032531.4

p.R228C

c.682C>T