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

1 paper

NM_001042492.3

p.S1834fs

c.5500_5501fs

Surrounding Variants

1 paper

NM_000267.3

p.S1813P

c.5437T>C

3 papers

NM_000267.3

p.L1812P

c.5435T>C

NM_001042492.3

p.L1833P

c.5498T>C

1 paper

NM_001042492.3

p.L1833insFs

c.5498dupT

1 paper

NM_000267.3

p.L1812V

c.5434C>G

4 papers

NM_000267.3

p.Q1814*

c.5440C>T

NM_001042492.3

p.Q1835*

c.5503C>T

1 paper

NM_000267.3

p.Q1814fs

c.5440_5441fs

1 paper

NM_000267.3

p.L1812_S1813insFs

c.5435_5438dup4

1 paper

NM_001042492.3

p.P1836delFs

c.5508delC

1 paper

NM_001042492.3

p.P1836S

c.5506C>T

3 papers

NM_001042492.3

p.E1832*

c.5494G>T

7 papers

NM_000267.3

p.W1810*

c.5430G>A

NM_001042492.3

p.W1831*

c.5493G>A

1 paper

NM_001042492.3

p.P1836P

c.5508C>T