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

6 papers

NM_020859.4

p.G60V

c.179G>T

Surrounding Variants

1 paper

NM_020859.4

p.E58K

c.172G>A

1 paper

NM_020859.4

p.D64N

c.190G>A

1 paper

NM_020859.4

p.S68insFs

c.203dupC

1 paper

NM_020859.4

p.E75_V76delFs

c.224_227del4

1 paper

NM_020859.4

p.V77V

c.231G>A

1 paper

NM_020859.4

p.S93F

c.278C>T

1 paper

NM_020859.4

p.Y99*

c.297C>A

1 paper

NM_020859.4

p.L102V

c.304C>G

1 paper

NM_020859.4

p.V106E

c.317T>A

2 papers

NM_020859.4

p.R107C

c.319C>T

1 paper

NM_020859.4

p.R107H

c.320G>A