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.N247_N248del1

c.740_742delACA

Surrounding Variants

1 paper

NM_153703.5

p.N247S

c.740A>G

1 paper

NM_153703.5

p.P255delFs

c.764delC

1 paper

NM_153703.5

p.S259G

c.775A>G

1 paper

NM_153703.5

p.E260G

c.779A>G

1 paper

NM_153703.5

p.V221V

c.663C>G

1 paper

NM_153703.5

p.G215D

c.644G>A

1 paper

NM_153703.5

p.N211delFs

c.631_632delAA

1 paper

NM_153703.5

p.R309L

c.926G>T

1 paper

NM_153703.5

p.L313L

c.937C>T

1 paper

NM_153703.5

p.G357D

c.1070G>A

4 papers

NM_153703.5

p.L378P

c.1133T>C

1 paper

NM_153703.5

p.G448G

c.1344G>A