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.R973*

c.2917C>T

Surrounding Variants

2 papers

NM_153240.5

p.R973P

c.2918G>C

7 papers

NM_153240.5

p.R973Q

c.2918G>A

1 paper

NM_153240.5

p.E971E

c.2913G>A

1 paper

NM_153240.5

p.D978delFs

c.2932delC

1 paper

NM_153240.5

p.L966_Q967delFs

c.2898_2899delGC

1 paper

NM_153240.5

p.V964_P965delFs

c.2892_2893delGT

1 paper

NM_153240.5

p.P982S

c.2944C>T

1 paper

NM_153240.5

p.A985T

c.2953G>A

1 paper

NM_153240.5

p.P979_A985delFs

c.2937_2953del17

1 paper

NM_153240.5

p.D980_S987insFs

c.2938_2959dup22

1 paper

NM_153240.5

p.L988_H989delFs

c.2964_2965delGG

1 paper

NM_153240.5

p.H989delFs

c.2966delT