Varaico: Literature-Extracted Genetic Variants

KIRREL1

61 papers

RefSeq Summary

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2...

Pfam Domains

C2-set_2aa 18–108UCSCCD80-like C2-set immunoglobulin domain

I-setaa 21–118UCSCImmunoglobulin I-set domain

C2-set_2aa 118–208UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 307–374UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

kirre like nephrin family adhesion molecule 1

HGNC Alias Symbol

NEPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018240.7

p.Q486*

c.1456C>T

Surrounding Variants

1 paper

NM_018240.7

p.I484I

c.1452C>T

1 paper

NM_018240.7

p.Q467_T468insT

c.1399_1403ins3

1 paper

NM_018240.7

p.D465H

c.1393G>C

1 paper

NM_018240.7

p.M462R

c.1385T>G

1 paper

NM_018240.7

p.E491Splc

c.1471+83G>A

1 paper

NM_018240.7

p.G451E

c.1352G>A

2 papers

NM_018240.7

p.R440C

c.1318C>T

1 paper

NM_018240.7

p.T437A

c.1309A>G

1 paper

NM_018240.7

p.P392T

c.1174C>A

1 paper

NM_018240.7

p.A501A

c.1503C>A

1 paper

NM_018240.7

p.A505T

c.1513G>A

1 paper

NM_018240.7

p.A505V

c.1514C>T