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

2 papers

NM_153240.5

p.S1252R

c.3756C>A

Surrounding Variants

3 papers

NM_153240.5

p.S1252R

c.3756C>G

6 papers

NM_153240.5

p.L1253V

c.3757C>G

2 papers

NM_153240.5

p.S1252R

c.3754A>C

1 paper

NM_153240.5

p.H1257_P1258delFs

c.3769_3772del4

6 papers

NM_153240.5

p.R1259*

c.3775C>T

1 paper

NM_153240.5

p.P1258_R1259delFs

c.3773_3776del4

1 paper

NM_153240.5

p.V1236I

c.3706G>A

1 paper

NM_153240.5

p.H1235D

c.3703C>G

3 papers

NM_153240.5

p.K1234delFs

c.3702delT

1 paper

NM_153240.5

p.K1234fs

c.3700_3701fs

1 paper

NM_153240.5

p.S1271fs

c.3811_3812fs

1 paper

NM_153240.5

p.L1270insFs

c.3810dupT