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

Selected Variant

1 paper

NM_153703.5

p.H120Y

c.358C>T

Surrounding Variants

1 paper

NM_153703.5

p.L116V

c.346C>G

1 paper

NM_153703.5

p.E115_S117del3

c.343_350del9

1 paper

NM_153703.5

p.N126N

c.378C>T

1 paper

NM_153703.5

p.Y112S

c.335A>C

1 paper

NM_153703.5

p.P69L

c.206C>T

1 paper

NM_153703.5

p.E58del1

c.172_174delGAG

1 paper

NM_153703.5

p.P50Q

c.149C>A

1 paper

NM_153703.5

p.E41V

c.122A>T

1 paper

NM_153703.5

p.S39del1

c.115_117delAGC

1 paper

NM_153703.5

p.H36N

c.106C>A

1 paper

NM_153703.5

p.S33insFs

c.98_99insG

1 paper

NM_153703.5

p.S33insFs

c.98_99insGG