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.R1298C

c.3892C>T

Surrounding Variants

1 paper

NM_020859.4

p.K1305E

c.3913A>G

4 papers

NM_020859.4

p.P1290L

c.3869C>T

1 paper

NM_020859.4

p.G1284delFs

c.3850delG

1 paper

NM_020859.4

p.E1282Q

c.3844G>C

1 paper

NM_020859.4

p.C1316Y

c.3947G>A

1 paper

NM_020859.4

p.P1350H

c.4049C>A

1 paper

NM_020859.4

p.G1365R

c.4093G>C

1 paper

NM_020859.4

p.G1365V

c.4094G>T

1 paper

NM_020859.4

p.Q1369R

c.4106A>G

1 paper

NM_020859.4

p.M1385I

c.4155G>A

1 paper

NM_020859.4

p.M1385I

c.4155G>C

1 paper

NM_020859.4

p.M1385I

c.4155G>T