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

1–12 of 539 variants

10 papers

NM_153240.5

p.R577*

c.1729C>T

9 papers

NM_153240.5

p.R702*

c.2104C>T

8 papers

NM_153240.5

p.R142*

c.424C>T

7 papers

NM_153240.5

p.E145_S146delFs

c.434_437del4

7 papers

NM_153240.5

p.N386S

c.1157A>G

7 papers

NM_153240.5

p.W606*

c.1817G>A

7 papers

NM_153240.5

p.W606*

c.1818G>A

7 papers

NM_153240.5

p.R973Q

c.2918G>A

6 papers

NM_153240.5

p.S361C

c.1082C>G

6 papers

NM_153240.5

p.R662Splc

c.1985+5G>A

6 papers

NM_153240.5

p.Q1114*

c.3340C>T

6 papers

NM_153240.5

p.L1253V

c.3757C>G