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.K359_S360delFs

c.1077_1078delTT

Surrounding Variants

4 papers

NM_153240.5

p.S360T

c.1079G>C

6 papers

NM_153240.5

p.S361C

c.1082C>G

1 paper

NM_153240.5

p.L362S

c.1085T>C

1 paper

NM_153240.5

p.E356K

c.1066G>A

1 paper

NM_153240.5

p.I364insFs

c.1092dupT

1 paper

NM_153240.5

p.I367_H368insFs

c.1101_1102ins11

1 paper

NM_153240.5

p.I367_H368insFs

c.1101_1102ins11

1 paper

NM_153240.5

p.H368Y

c.1102C>T

1 paper

NM_153240.5

p.H368fs

c.1102_1103fs

1 paper

NM_153240.5

p.T351S

c.1052C>G

1 paper

NM_153240.5

p.T351S

c.1051A>T

1 paper

NM_153240.5

p.Y349H

c.1045T>C