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

3 papers

NM_000458.4

p.L92F

c.274C>T

Surrounding Variants

1 paper

NM_000458.4

p.T88_I91del0

c.262_273del12

1 paper

NM_000458.4

p.P89_L92delFs

c.266_275del10

1 paper

NM_000458.4

p.P90S

c.268C>T

1 paper

NM_000458.4

p.P89insFs

c.266dupC

1 paper

NM_000458.4

p.E94delFs

c.280delC

1 paper

NM_000458.4

p.P89L

c.266C>T

2 papers

NM_000458.4

p.T88_P89delFs

c.264_265delGT

1 paper

NM_000458.4

p.P89fs

c.265_266fs

1 paper

NM_000458.4

p.L95fs

c.283_284fs

1 paper

NM_000458.4

p.T88_L95insFs

c.262_283dup22

1 paper

NM_000458.4

p.E94_L95insFs

c.281_284dup4

1 paper

NM_000458.4

p.L95fs

c.283_284fs