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

1 paper

NM_153240.5

p.K1188R

c.3563A>G

Surrounding Variants

2 papers

NM_153240.5

p.K1189fs

c.3565_3566fs

1 paper

NM_153240.5

p.K1189fs

c.3565_3566fs

1 paper

NM_153240.5

p.L1186delFs

c.3557delA

3 papers

NM_153240.5

p.K1189_M1190delFs

c.3567_3568delTT

2 papers

NM_153240.5

p.M1190_G1191Splc

c.3570+5G>A

4 papers

NM_153240.5

p.A1184T

c.3550G>A

1 paper

NM_153240.5

p.T1179M

c.3536C>T

1 paper

NM_153240.5

p.Y1178H

c.3532T>C

1 paper

NM_153240.5

p.H1173D

c.3517C>G

1 paper

NM_153240.5

p.L1169insFs

c.3507dupA

1 paper

NM_153240.5

p.R1167H

c.3500G>A

1 paper

NM_153240.5

p.R1165Q

c.3494G>A