Varaico: Literature-Extracted Genetic Variants

SHROOM3

165 papers

RefSeq Summary

This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mi...

Pfam Domains

PDZaa 28–107UCSCPDZ domain

ASD1aa 884–1066UCSCApx/Shroom domain ASD1

ASD2aa 1670–1956UCSCApx/Shroom domain ASD2

Gene Aliases

HGNC Name

shroom family member 3

HGNC Alias Symbols

ShrmL; SHRM; KIAA1481; APXL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020859.4

p.L15F

c.45A>C

Surrounding Variants

1 paper

NM_020859.4

p.L15F

c.45A>T

1 paper

NM_020859.4

p.L15ins1

c.44_45insGCC

1 paper

NM_020859.4

p.T14A

c.40A>G

1 paper

NM_020859.4

p.T19M

c.56C>T

1 paper

NM_020859.4

p.K10R

c.29A>G

1 paper

NM_020859.4

p.M2I

c.6G>A

1 paper

NM_020859.4

p.M2I

c.6G>C

1 paper

NM_020859.4

p.M2I

c.6G>T

3 papers

NM_020859.4

p.M2R

c.5T>G

1 paper

NM_020859.4

p.G34G

c.102A>T

1 paper

NM_020859.4

p.G35E

c.104G>A

1 paper

NM_020859.4

p.G39V

c.116G>T