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.G1365R

c.4093G>C

Surrounding Variants

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.P1350H

c.4049C>A

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

1 paper

NM_020859.4

p.G1391D

c.4172G>A

1 paper

NM_020859.4

p.H1392R

c.4175A>G

1 paper

NM_020859.4

p.Q1396L

c.4187A>T

1 paper

NM_020859.4

p.E1404G

c.4211A>G

1 paper

NM_020859.4

p.C1316Y

c.3947G>A

1 paper

NM_020859.4

p.P1423S

c.4267C>T