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

4 papers

NM_020859.4

p.K1576E

c.4726A>G

Surrounding Variants

1 paper

NM_020859.4

p.V1577L

c.4729G>C

1 paper

NM_020859.4

p.V1577L

c.4729G>T

1 paper

NM_020859.4

p.N1572S

c.4715A>G

1 paper

NM_020859.4

p.M1585L

c.4753A>C

1 paper

NM_020859.4

p.M1585L

c.4753A>T

1 paper

NM_020859.4

p.T1613I

c.4838C>T

1 paper

NM_020859.4

p.P1615T

c.4843C>A

1 paper

NM_020859.4

p.V1620I

c.4858G>A

3 papers

NM_020859.4

p.Q1623K

c.4867C>A

1 paper

NM_020859.4

p.S1656_P1657delFs

c.4966_4969del4

1 paper

NM_020859.4

p.V1676D

c.5027T>A

1 paper

NM_020859.4

p.L1702F

c.5106G>C