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.I394S

c.1181T>G

Surrounding Variants

1 paper

NM_153240.5

p.I394N

c.1181T>A

2 papers

NM_153240.5

p.R392*

c.1174C>T

5 papers

NM_153240.5

p.R397C

c.1189C>T

3 papers

NM_153240.5

p.R397H

c.1190G>A

1 paper

NM_153240.5

p.K390delFs

c.1170delT

1 paper

NM_153240.5

p.L398L

c.1194G>A

1 paper

NM_153240.5

p.G389R

c.1165G>C

1 paper

NM_153240.5

p.G389R

c.1165G>A

1 paper

NM_153240.5

p.L384_P387del4

c.1150_1160del12

7 papers

NM_153240.5

p.N386S

c.1157A>G

4 papers

NM_153240.5

p.K402delFs

c.1206delT

3 papers

NM_153240.5

p.V403fs

c.1207_1208fs