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.S169S

c.507C>T

Surrounding Variants

1 paper

NM_018240.7

p.Q162_Q163insFs

c.486_487insA

1 paper

NM_018240.7

p.G160A

c.479G>C

1 paper

NM_018240.7

p.W156_F157insFs

c.468_469insT

1 paper

NM_018240.7

p.W156insFs

c.467_468insT

1 paper

NM_018240.7

p.H139N

c.415C>A

2 papers

NM_018240.7

p.E121K

c.361G>A

1 paper

NM_018240.7

p.I118Splc

c.353-31T>C

1 paper

NM_018240.7

p.S183C

c.547A>T

1 paper

NM_018240.7

p.N188I

c.563A>T

1 paper

NM_018240.7

p.V197A

c.590T>C

1 paper

NM_018240.7

p.E205K

c.613G>A

1 paper

NM_018240.7

p.L217L

c.651G>A