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.K849R

c.2546A>G

Surrounding Variants

1 paper

NM_020859.4

p.E852K

c.2554G>A

1 paper

NM_020859.4

p.G844E

c.2531G>A

1 paper

NM_020859.4

p.R876C

c.2626C>T

1 paper

NM_020859.4

p.T817A

c.2449A>G

1 paper

NM_020859.4

p.P881P

c.2643G>A

1 paper

NM_020859.4

p.D882N

c.2644G>A

1 paper

NM_020859.4

p.A883P

c.2647G>C

1 paper

NM_020859.4

p.V815I

c.2443G>A

2 papers

NM_020859.4

p.R887H

c.2660G>A

1 paper

NM_020859.4

p.Q889R

c.2666A>G

1 paper

NM_020859.4

p.F805I

c.2413T>A

1 paper

NM_020859.4

p.Q793P

c.2378A>C