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.E370K

c.1108G>A

Surrounding Variants

1 paper

NM_020859.4

p.E370D

c.1110G>C

1 paper

NM_020859.4

p.E370D

c.1110G>T

1 paper

NM_020859.4

p.S367T

c.1100G>C

1 paper

NM_020859.4

p.C365insFs

c.1093_1094insC

2 papers

NM_020859.4

p.Q363R

c.1088A>G

1 paper

NM_020859.4

p.P358S

c.1072C>T

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

1 paper

NM_020859.4

p.A393T

c.1177G>A

1 paper

NM_020859.4

p.Q342H

c.1026G>C

1 paper

NM_020859.4

p.Q342H

c.1026G>T