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.K4M

c.11A>T

Surrounding Variants

1 paper

NM_000458.4

p.K4delins

c.11delinsC

1 paper

NM_000458.4

p.K4insFs

c.11dupA

1 paper

NM_000458.4

p.K4K

c.12G>A

2 papers

NM_000458.4

p.S3S

c.9C>T

1 paper

NM_000458.4

p.L5F

c.13C>T

1 paper

NM_000458.4

p.S3S

c.9C>G

1 paper

NM_000458.4

p.K4delFs

c.12delC

1 paper

NM_000458.4

p.M1_K4del4

c.1_11del12

1 paper

NM_000458.4

p.M1_V2delFs

c.3_6del4

1 paper

NM_000458.4

p.L5L

c.15C>A

1 paper

NM_000458.4

p.V2insFs

c.5dupT

1 paper

NM_000458.4

p.V2V

c.6G>A