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

1–12 of 297 variants

8 papers

NM_020859.4

p.P469A

c.1405C>G

8 papers

NM_020859.4

p.P1244L

c.3731C>T

6 papers

NM_020859.4

p.G60V

c.179G>T

5 papers

NM_020859.4

p.G279A

c.836G>C

4 papers

NM_020859.4

p.P1290L

c.3869C>T

4 papers

NM_020859.4

p.K1576E

c.4726A>G

3 papers

NM_020859.4

p.M2R

c.5T>G

3 papers

NM_020859.4

p.R159Q

c.476G>A

3 papers

NM_020859.4

p.R414Q

c.1241G>A

3 papers

NM_020859.4

p.K707R

c.2120A>G

3 papers

NM_020859.4

p.V1054L

c.3160G>C

3 papers

NM_020859.4

p.V1054L

c.3160G>T