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.N594delFs

c.1782delC

Surrounding Variants

2 papers

NM_020859.4

p.N594fs

c.1780_1781fs

1 paper

NM_020859.4

p.H599P

c.1796A>C

1 paper

NM_020859.4

p.L603F

c.1807C>T

1 paper

NM_020859.4

p.S570T

c.1708T>A

1 paper

NM_020859.4

p.A569V

c.1706C>T

1 paper

NM_020859.4

p.E564A

c.1691A>C

1 paper

NM_020859.4

p.E624G

c.1871A>G

1 paper

NM_020859.4

p.S561L

c.1682C>T

1 paper

NM_020859.4

p.V557delFs

c.1670delT

1 paper

NM_020859.4

p.P554L

c.1661C>T

1 paper

NM_020859.4

p.Q649R

c.1946A>G

1 paper

NM_020859.4

p.S650G

c.1948A>G