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.H163Q

c.489T>G

Surrounding Variants

1 paper

NM_153240.5

p.H163Q

c.489T>A

1 paper

NM_153240.5

p.E162delFs

c.485_486delTT

1 paper

NM_153240.5

p.E162del1

c.484_486delTTC

1 paper

NM_153240.5

p.T160delFs

c.478_479delGT

1 paper

NM_153240.5

p.K167ins2

c.500_501ins6

1 paper

NM_153240.5

p.E156_R157delFs

c.468_471del4

2 papers

NM_153240.5

p.R157delFs

c.469delT

1 paper

NM_153240.5

p.R170fs

c.508_509fs

1 paper

NM_153240.5

p.Q171insFs

c.512_513insGC

1 paper

NM_153240.5

p.F172I

c.514T>A

1 paper

NM_153240.5

p.A154P

c.460G>C

2 papers

NM_153240.5

p.K173R

c.518A>G