Varaico: Literature-Extracted Genetic Variants

PHIP

222 papers

RefSeq Summary

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growt...

Pfam Domains

BRWD1_Naa 1–87UCSCBRWD1-like, N-terminal domain

WD40aa 174–211UCSCWD domain, G-beta repeat

WD40aa 215–253UCSCWD domain, G-beta repeat

WD40aa 257–298UCSCWD domain, G-beta repeat

WD40aa 355–393UCSCWD domain, G-beta repeat

WD40aa 456–495UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

PHIP subunit of CUL4-Ring ligase complex

HGNC Alias Symbols

ndrp; BRWD2; RepID; DCAF14; FLJ20705

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_017934.7

p.Y1316*

c.3948C>A

Surrounding Variants

6 papers

NM_017934.7

p.Y1316*

c.3948C>G

5 papers

NM_017934.7

p.Y1316insFs

c.3947dupA

1 paper

NM_017934.7

p.I1318insFs

c.3952dupA

1 paper

NM_017934.7

p.R1310H

c.3929G>A

2 papers

NM_017934.7

p.R1310C

c.3928C>T

2 papers

NM_017934.7

p.R1308*

c.3922A>T

1 paper

NM_017934.7

p.Q1343*

c.4027C>T

1 paper

NM_017934.7

p.R1342_Q1343del2

c.4024_4028del6

1 paper

NM_017934.7

p.K1301insFs

c.3902dupA

3 papers

NM_017934.7

p.R1298*

c.3892C>T

1 paper

NM_017934.7

p.T1295I

c.3884C>T

1 paper

NM_017934.7

p.S1283F

c.3848C>T