Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001042492.3

p.L84delFs

c.252delG

Surrounding Variants

1 paper

NM_001042492.3

p.I85_E91delFs

c.254_272del19

2 papers

NM_001042492.3

p.L84F

c.252G>C

2 papers

NM_001042492.3

p.L84F

c.252G>T

1 paper

NM_001042492.3

p.I85_I86del2

c.253_257del6

1 paper

NM_001042492.3

p.L84V

c.250T>G

1 paper

NM_001042492.3

p.L84fs

c.250_251fs

1 paper

NM_001042492.3

p.L84_T89insFs

c.251_266dup16

3 papers

NM_001042492.3

p.I85fs

c.253_254fs

1 paper

NM_001042492.3

p.I85insFs

c.254dupT

1 paper

NM_001042492.3

p.I85delFs

c.254delT

1 paper

NM_001042492.3

p.I85fs

c.253_254fs

1 paper

NM_001042492.3

p.Q83H

c.249G>C