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.V646fs

c.1936_1937fs

Surrounding Variants

1 paper

NM_153240.5

p.N645T

c.1934A>C

1 paper

NM_153240.5

p.V646delFs

c.1936_1937delAC

1 paper

NM_153240.5

p.V644M

c.1930G>A

4 papers

NM_153240.5

p.P643L

c.1928C>T

1 paper

NM_153240.5

p.V648insFs

c.1943dupT

1 paper

NM_153240.5

p.D640E

c.1920T>G

1 paper

NM_153240.5

p.D640E

c.1920T>A

2 papers

NM_153240.5

p.P658S

c.1972C>T

1 paper

NM_153240.5

p.P659fs

c.1975_1976fs

1 paper

NM_153240.5

p.V631_E632delFs

c.1892_1895del4

1 paper

NM_153240.5

p.P659delFs

c.1976delG

1 paper

NM_153240.5

p.Q630*

c.1888C>T