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.D303N

c.907G>A

Surrounding Variants

2 papers

NM_020859.4

p.A302V

c.905C>T

1 paper

NM_020859.4

p.Q301*

c.901C>T

1 paper

NM_020859.4

p.T313S

c.937A>T

1 paper

NM_020859.4

p.T313N

c.938C>A

1 paper

NM_020859.4

p.T313S

c.938C>G

1 paper

NM_020859.4

p.R314W

c.940C>T

2 papers

NM_020859.4

p.S325A

c.973T>G

1 paper

NM_020859.4

p.R280W

c.838C>T

5 papers

NM_020859.4

p.G279A

c.836G>C

1 paper

NM_020859.4

p.S278F

c.833C>T

1 paper

NM_020859.4

p.G276V

c.827G>T

1 paper

NM_020859.4

p.R336P

c.1007G>C