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.A723V

c.2168C>T

Surrounding Variants

1 paper

NM_153240.5

p.R724H

c.2171G>A

5 papers

NM_153240.5

p.F718F

c.2154C>T

1 paper

NM_153240.5

p.V715delFs

c.2145delG

4 papers

NM_153240.5

p.N711S

c.2132A>G

1 paper

NM_153240.5

p.S706_A707del1

c.2117_2119delCAG

1 paper

NM_153240.5

p.C704R

c.2110T>C

2 papers

NM_153240.5

p.H703Q

c.2109C>G

2 papers

NM_153240.5

p.H703Q

c.2109C>A

9 papers

NM_153240.5

p.R702*

c.2104C>T

1 paper

NM_153240.5

p.E697_K699del3

c.2089_2096del9

1 paper

NM_153240.5

p.E697_K699delFs

c.2089_2095del7

1 paper

NM_153240.5

p.Q696_E697Splc

c.2089-9C>T