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.L153L

c.459G>A

Surrounding Variants

1 paper

NM_153703.5

p.N155fs

c.463_464fs

1 paper

NM_153703.5

p.A141T

c.421G>A

1 paper

NM_153703.5

p.V172_F174del3

c.514_521del9

1 paper

NM_153703.5

p.V172V

c.516G>A

1 paper

NM_153703.5

p.T180S

c.538A>T

1 paper

NM_153703.5

p.I182I

c.546C>A

1 paper

NM_153703.5

p.L185F

c.553C>T

1 paper

NM_153703.5

p.N211delFs

c.631_632delAA

1 paper

NM_153703.5

p.G215D

c.644G>A

1 paper

NM_153703.5

p.V221V

c.663C>G

1 paper

NM_153703.5

p.N247_N248del1

c.740_742delACA

1 paper

NM_153703.5

p.N247S

c.740A>G