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

3 papers

NM_020859.4

p.R159Q

c.476G>A

Surrounding Variants

1 paper

NM_020859.4

p.R159*

c.475C>T

1 paper

NM_020859.4

p.A157S

c.469G>T

1 paper

NM_020859.4

p.S162L

c.485C>T

1 paper

NM_020859.4

p.R153C

c.457C>T

1 paper

NM_020859.4

p.K171*

c.511A>T

1 paper

NM_020859.4

p.Q172H

c.516A>T

1 paper

NM_020859.4

p.P173H

c.518C>A

1 paper

NM_020859.4

p.D174N

c.520G>A

2 papers

NM_020859.4

p.G186R

c.556G>C

2 papers

NM_020859.4

p.H194N

c.580C>A

1 paper

NM_020859.4

p.H207Y

c.619C>T

1 paper

NM_020859.4

p.S219F

c.656C>T