Varaico: Literature-Extracted Genetic Variants

PODN

46 papers

RefSeq Summary

The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. St...

Pfam Domains

LRR_5aa 97–220UCSCBspA type Leucine rich repeat region (6 copies)

LRR_8aa 238–300UCSCLeucine rich repeat

LRR_8aa 380–442UCSCLeucine rich repeat

LRR_8aa 451–513UCSCLeucine rich repeat

LRR_8aa 522–583UCSCLeucine rich repeat

Gene Aliases

HGNC Name

podocan

HGNC Alias Symbols

PCAN; PODOCAN; MGC24995; SLRR5A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

4 papers

NM_153703.5

p.L378P

c.1133T>C

4 papers

NM_153703.5

p.L520P

c.1559T>C

2 papers

NM_153703.5

p.R32Q

c.95G>A

2 papers

NM_153703.5

p.V472A

c.1415T>C

1 paper

NM_153703.5

p.L11P

c.32T>C

1 paper

NM_153703.5

p.L13delFs

c.39delG

1 paper

NM_153703.5

p.G20delFs

c.58delG

1 paper

NM_153703.5

p.P28L

c.83C>T

1 paper

NM_153703.5

p.S33insFs

c.98_99insG

1 paper

NM_153703.5

p.S33insFs

c.98_99insGG

1 paper

NM_153703.5

p.H36N

c.106C>A

1 paper

NM_153703.5

p.S39del1

c.115_117delAGC