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

1–12 of 80 variants

5 papers

NM_018240.7

p.S573L

c.1718C>T

2 papers

NM_018240.7

p.V39M

c.115G>A

2 papers

NM_018240.7

p.E121K

c.361G>A

2 papers

NM_018240.7

p.N390N

c.1170C>T

2 papers

NM_018240.7

p.R440C

c.1318C>T

1 paper

NM_018240.7

p.S3insFs

c.7dupA

1 paper

NM_018240.7

p.S3fs

c.7_8fs

1 paper

NM_018240.7

p.S3_L4insFs

c.9_10insA

1 paper

NM_018240.7

p.S12C

c.35C>G

1 paper

NM_018240.7

p.G18Splc

c.52+8C>T

1 paper

NM_018240.7

p.G18Splc

c.53-39260G>A

1 paper

NM_018240.7

p.T19A

c.55A>G