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.A80T

c.238G>A

Surrounding Variants

1 paper

NM_018240.7

p.V75E

c.224T>A

1 paper

NM_018240.7

p.T103T

c.309G>A

1 paper

NM_018240.7

p.V116V

c.348G>A

1 paper

NM_018240.7

p.Q64*

c.190C>T

1 paper

NM_018240.7

p.A59D

c.176C>A

1 paper

NM_018240.7

p.C42S

c.124T>A

2 papers

NM_018240.7

p.V39M

c.115G>A

1 paper

NM_018240.7

p.R37Q

c.110G>A

1 paper

NM_018240.7

p.Q36L

c.107A>T

1 paper

NM_018240.7

p.T19A

c.55A>G

1 paper

NM_018240.7

p.I118Splc

c.353-31T>C

2 papers

NM_018240.7

p.E121K

c.361G>A