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.R414Q

c.1241G>A

Surrounding Variants

1 paper

NM_020859.4

p.D408Y

c.1222G>T

1 paper

NM_020859.4

p.S422F

c.1265C>T

1 paper

NM_020859.4

p.S405C

c.1214C>G

1 paper

NM_020859.4

p.W404C

c.1212G>C

1 paper

NM_020859.4

p.W404C

c.1212G>T

1 paper

NM_020859.4

p.E429A

c.1286A>C

1 paper

NM_020859.4

p.R398H

c.1193G>A

1 paper

NM_020859.4

p.R398C

c.1192C>T

1 paper

NM_020859.4

p.A393T

c.1177G>A

1 paper

NM_020859.4

p.Y392*

c.1176C>A

1 paper

NM_020859.4

p.Y392*

c.1176C>G

1 paper

NM_020859.4

p.Y392Y

c.1176C>T