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

8 papers

NM_020859.4

p.P1244L

c.3731C>T

Surrounding Variants

1 paper

NM_020859.4

p.R1241G

c.3721A>G

2 papers

NM_020859.4

p.G1234C

c.3700G>T

1 paper

NM_020859.4

p.S1229L

c.3686C>T

1 paper

NM_020859.4

p.E1227E

c.3681A>G

1 paper

NM_020859.4

p.L1225P

c.3674T>C

1 paper

NM_020859.4

p.P1206P

c.3618C>T

1 paper

NM_020859.4

p.N1193N

c.3579C>T

1 paper

NM_020859.4

p.G1181V

c.3542G>T

1 paper

NM_020859.4

p.G1177A

c.3530G>C

1 paper

NM_020859.4

p.S1173T

c.3517T>A

1 paper

NM_020859.4

p.S1172R

c.3516C>A

1 paper

NM_020859.4

p.S1172R

c.3516C>G