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.E224D

c.672G>T

Surrounding Variants

1 paper

NM_020859.4

p.E224D

c.672G>C

1 paper

NM_020859.4

p.E224A

c.671A>C

1 paper

NM_020859.4

p.E224_E227del4

c.670_680del12

1 paper

NM_020859.4

p.S219F

c.656C>T

2 papers

NM_020859.4

p.P233T

c.697C>A

1 paper

NM_020859.4

p.H207Y

c.619C>T

1 paper

NM_020859.4

p.S245N

c.734G>A

1 paper

NM_020859.4

p.I246T

c.737T>C

2 papers

NM_020859.4

p.H251Y

c.751C>T

1 paper

NM_020859.4

p.F252L

c.754T>C

1 paper

NM_020859.4

p.F252L

c.756C>A

1 paper

NM_020859.4

p.F252L

c.756C>G