Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000458.4

p.M315insFs

c.944_945insA

Surrounding Variants

2 papers

NM_000458.4

p.M315T

c.944T>C

1 paper

NM_000458.4

p.M315_D316insFs

c.945_946insA

3 papers

NM_000458.4

p.A314T

c.940G>A

1 paper

NM_000458.4

p.D316delFs

c.947delT

1 paper

NM_000458.4

p.A317S

c.949G>T

1 paper

NM_000458.4

p.L313insFs

c.938dupT

1 paper

NM_000458.4

p.A317insFs

c.949_950insA

3 papers

NM_000458.4

p.A317T

c.949G>A

2 papers

NM_000458.4

p.A317fs

c.949_950fs

1 paper

NM_000458.4

p.K312_L313Fs

c.935_937delinsAFs

4 papers

NM_000458.4

p.A317delFs

c.949delC

1 paper

NM_000458.4

p.A317fs

c.949_950fs