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.E1028D

c.3084G>T

Surrounding Variants

1 paper

NM_020859.4

p.E1028D

c.3084G>C

1 paper

NM_020859.4

p.E1028K

c.3082G>A

1 paper

NM_020859.4

p.R1048C

c.3142C>T

1 paper

NM_020859.4

p.R1008H

c.3023G>A

1 paper

NM_020859.4

p.V1054M

c.3160G>A

3 papers

NM_020859.4

p.V1054L

c.3160G>C

3 papers

NM_020859.4

p.V1054L

c.3160G>T

1 paper

NM_020859.4

p.A1003T

c.3007G>A

1 paper

NM_020859.4

p.R1063P

c.3188G>C

1 paper

NM_020859.4

p.D1064N

c.3190G>A

1 paper

NM_020859.4

p.S1072R

c.3214A>C

1 paper

NM_020859.4

p.S1072R

c.3216C>A