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

3 papers

NM_020859.4

p.K707R

c.2120A>G

Surrounding Variants

1 paper

NM_020859.4

p.A709T

c.2125G>A

1 paper

NM_020859.4

p.P710T

c.2128C>A

1 paper

NM_020859.4

p.R718W

c.2152C>T

1 paper

NM_020859.4

p.S677G

c.2029A>G

1 paper

NM_020859.4

p.E743K

c.2227G>A

1 paper

NM_020859.4

p.E670Q

c.2008G>C

1 paper

NM_020859.4

p.P748T

c.2242C>A

1 paper

NM_020859.4

p.P748H

c.2243C>A

1 paper

NM_020859.4

p.P748R

c.2243C>G

1 paper

NM_020859.4

p.S749_P761del0

c.2246_2281del36

1 paper

NM_020859.4

p.L665V

c.1993C>G

1 paper

NM_020859.4

p.P751L

c.2252C>T