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

6 papers

NM_017934.7

p.Y1149*

c.3447T>A

Surrounding Variants

6 papers

NM_017934.7

p.Y1149*

c.3447T>G

1 paper

NM_017934.7

p.R1145G

c.3433A>G

1 paper

NM_017934.7

p.W1156L

c.3467G>T

1 paper

NM_017934.7

p.R1167fs

c.3499_3500fs

1 paper

NM_017934.7

p.E1132*

c.3394G>T

1 paper

NM_017934.7

p.R1167delFs

c.3499delT

1 paper

NM_017934.7

p.I1168fs

c.3502_3503fs

1 paper

NM_017934.7

p.I1168insFs

c.3502dupA

1 paper

NM_017934.7

p.D1179G

c.3536A>G

1 paper

NM_017934.7

p.A1181S

c.3541G>T

1 paper

NM_017934.7

p.A1181G

c.3542C>G

1 paper

NM_017934.7

p.A1186V

c.3557C>T