Varaico: Literature-Extracted Genetic Variants

NPHP3

289 papers

RefSeq Summary

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin,...

Pfam Domains

NPHP3aa 295–454UCSCNephrocystin-3 domain

NPHP3_Naa 511–652UCSCNephrocystin 3, N-terminal

NPHP3_helaa 675–834UCSCNephrocystin 3, helical domain

TPR_NPHP3aa 845–1083UCSCNephrocystin-3 TPR domain

TPR_12aa 1091–1167UCSCTetratricopeptide repeat

TPR_12aa 1175–1251UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

nephrocystin 3

HGNC Alias Symbols

NPH3; KIAA2000; FLJ30691; FLJ36696; MKS7; SLSN3; CFAP31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_153240.5

p.L1141P

c.3422T>C

Surrounding Variants

1 paper

NM_153240.5

p.N1140insFs

c.3419dupA

1 paper

NM_153240.5

p.L1138fs

c.3412_3413fs

2 papers

NM_153240.5

p.L1138delFs

c.3412_3413delAA

1 paper

NM_153240.5

p.Q1136*

c.3406C>T

1 paper

NM_153240.5

p.A1135delFs

c.3403delC

4 papers

NM_153240.5

p.C1134_A1135delFs

c.3402_3403delCA

2 papers

NM_153240.5

p.A1135fs

c.3403_3404fs

1 paper

NM_153240.5

p.Q1150*

c.3448C>T

5 papers

NM_153240.5

p.E1156*

c.3466G>T

4 papers

NM_153240.5

p.R1125*

c.3373C>T

1 paper

NM_153240.5

p.M1122L

c.3364A>C

2 papers

NM_153240.5

p.R1118H

c.3353G>A