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

2 papers

NM_001042492.3

p.I2264insFs

c.6790_6791insA

Surrounding Variants

1 paper

NM_001042492.3

p.Q2263H

c.6789G>C

1 paper

NM_001042492.3

p.Q2263H

c.6789G>T

1 paper

NM_001042492.3

p.I2264fs

c.6790_6791fs

4 papers

NM_001042492.3

p.I2264insFs

c.6791dupT

4 papers

NM_001042492.3

p.I2264insFs

c.6790_6791insTT

2 papers

NM_001042492.3

p.I2264L

c.6790A>C

1 paper

NM_001042492.3

p.Q2263P

c.6788A>C

1 paper

NM_001042492.3

p.I2264L

c.6790A>T

8 papers

NM_001042492.3

p.Q2263*

c.6787C>T

NM_000267.3

p.Q2242*

c.6724C>T

1 paper

NM_001042492.3

p.Q2263fs

c.6787_6788fs

11 papers

NM_001042492.3

p.Q2263_I2264delFs

c.6789_6792del4

21 papers

NM_001042492.3

p.I2264insFs

c.6791_6792insA