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

3 papers

NM_032531.4

p.S729I

c.2186G>T

Surrounding Variants

1 paper

NM_032531.4

p.D728delFs

c.2184delG

5 papers

NM_032531.4

p.V731F

c.2191G>T

1 paper

NM_032531.4

p.V731I

c.2191G>A

1 paper

NM_032531.4

p.S734S

c.2202C>T

1 paper

NM_032531.4

p.D744Y

c.2230G>T

1 paper

NM_032531.4

p.K745N

c.2235G>T

1 paper

NM_032531.4

p.K745N

c.2235G>C

1 paper

NM_032531.4

p.R694Q

c.2081G>A

1 paper

NM_032531.4

p.R687C

c.2059C>T

1 paper

NM_032531.4

p.G686A

c.2057G>C

1 paper

NM_032531.4

p.V778A

c.2333T>C

1 paper

NM_032531.4

p.S674P

c.2020T>C