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.R1113H

c.3338G>A

Surrounding Variants

1 paper

NM_020859.4

p.G1110R

c.3328G>A

1 paper

NM_020859.4

p.G1110R

c.3328G>C

1 paper

NM_020859.4

p.P1109L

c.3326C>T

1 paper

NM_020859.4

p.E1108A

c.3323A>C

1 paper

NM_020859.4

p.P1123_G1132delins

c.3368_3394delinsCTCCAGCTC

1 paper

NM_020859.4

p.G1124R

c.3370G>C

1 paper

NM_020859.4

p.A1102fs

c.3304_3305fs

1 paper

NM_020859.4

p.A1101_A1116delFs

c.3302_3347del46

1 paper

NM_020859.4

p.E1129K

c.3385G>A

1 paper

NM_020859.4

p.K1093_T1094insC

c.3277_3281ins3

1 paper

NM_020859.4

p.Q1091R

c.3272A>G

1 paper

NM_020859.4

p.S1072R

c.3216C>A