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

4 papers

NM_017934.7

p.S287Y

c.860C>A

Surrounding Variants

1 paper

NM_017934.7

p.S287F

c.860C>T

1 paper

NM_017934.7

p.T289P

c.865A>C

1 paper

NM_017934.7

p.G290R

c.868G>C

1 paper

NM_017934.7

p.G290R

c.868G>A

1 paper

NM_017934.7

p.W298*

c.893G>A

1 paper

NM_017934.7

p.W298*

c.894G>A

1 paper

NM_017934.7

p.W300*

c.899G>A

1 paper

NM_017934.7

p.W300*

c.900G>A

1 paper

NM_017934.7

p.I307V

c.919A>G

4 papers

NM_017934.7

p.I307fs

c.919_920fs

4 papers

NM_017934.7

p.I307fs

c.919_920fs

6 papers

NM_017934.7

p.I307_N308delFs

c.919_923del5