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.R968*

c.2902C>T

Surrounding Variants

1 paper

NM_017934.7

p.R968P

c.2903G>C

2 papers

NM_017934.7

p.R968Q

c.2903G>A

1 paper

NM_017934.7

p.V964F

c.2890G>T

1 paper

NM_017934.7

p.E963_V964Splc

c.2890-2A>G

1 paper

NM_017934.7

p.R979W

c.2935C>T

2 papers

NM_017934.7

p.Q991K

c.2971C>A

1 paper

NM_017934.7

p.W993*

c.2978G>A

1 paper

NM_017934.7

p.W993*

c.2979G>A

1 paper

NM_017934.7

p.R999Q

c.2996G>A

1 paper

NM_017934.7

p.L1021F

c.3061C>T

1 paper

NM_017934.7

p.T1030A

c.3088A>G

1 paper

NM_017934.7

p.T1030I

c.3089C>T