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.E1502K

c.4504G>A

Surrounding Variants

1 paper

NM_020859.4

p.P1498L

c.4493C>T

1 paper

NM_020859.4

p.D1506E

c.4518C>A

1 paper

NM_020859.4

p.D1506E

c.4518C>G

1 paper

NM_020859.4

p.P1515L

c.4544C>T

1 paper

NM_020859.4

p.S1486F

c.4457C>T

1 paper

NM_020859.4

p.L1526R

c.4577T>G

1 paper

NM_020859.4

p.P1528Q

c.4583C>A

1 paper

NM_020859.4

p.P1534L

c.4601C>T

1 paper

NM_020859.4

p.P1539A

c.4615C>G

1 paper

NM_020859.4

p.H1456D

c.4366C>G

1 paper

NM_020859.4

p.K1455N

c.4365G>C

1 paper

NM_020859.4

p.K1455N

c.4365G>T