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

7 papers

NM_153240.5

p.W606*

c.1818G>A

Surrounding Variants

7 papers

NM_153240.5

p.W606*

c.1817G>A

1 paper

NM_153240.5

p.E602Q

c.1804G>C

1 paper

NM_153240.5

p.R613C

c.1837C>T

1 paper

NM_153240.5

p.D595delFs

c.1785delA

1 paper

NM_153240.5

p.I618T

c.1853T>C

1 paper

NM_153240.5

p.V621_I622delFs

c.1863_1866del4

2 papers

NM_153240.5

p.S624F

c.1871C>T

1 paper

NM_153240.5

p.S624Y

c.1871C>A

1 paper

NM_153240.5

p.W587*

c.1761G>A

1 paper

NM_153240.5

p.W587*

c.1760G>A

1 paper

NM_153240.5

p.T579_L580del2

c.1735_1739del6

1 paper

NM_153240.5

p.T579I

c.1736C>T