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

2 papers

NM_153240.5

p.K144E

c.430A>G

Surrounding Variants

1 paper

NM_153240.5

p.K144insFs

c.432dupA

4 papers

NM_153240.5

p.E145fs

c.433_434fs

2 papers

NM_153240.5

p.E145fs

c.433_434fs

8 papers

NM_153240.5

p.R142*

c.424C>T

1 paper

NM_153240.5

p.L141P

c.422T>C

7 papers

NM_153240.5

p.E145_S146delFs

c.434_437del4

1 paper

NM_153240.5

p.E145_S146delFs

c.435_438del4

1 paper

NM_153240.5

p.Q138_I140delFs

c.414_418del5

2 papers

NM_153240.5

p.Q138fs

c.412_413fs

2 papers

NM_153240.5

p.Y137delFs

c.411delA

2 papers

NM_153240.5

p.A150V

c.449C>T

1 paper

NM_153240.5

p.T136fs

c.406_407fs