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.T1808S

c.5422A>T

Surrounding Variants

2 papers

NM_000267.3

p.T1787R

c.5360C>G

5 papers

NM_001042492.3

p.T1808M

c.5423C>T

NM_000267.3

p.T1787M

c.5360C>T

1 paper

NM_001042492.3

p.G1807D

c.5420G>A

1 paper

NM_001042492.3

p.P1809delFs

c.5425delC

3 papers

NM_001042492.3

p.P1809T

c.5425C>A

42 papers

NM_001042492.3

p.P1809S

c.5425C>T

1 paper

NM_001042492.3

p.G1807S

c.5419G>A

1 paper

NM_001042492.3

p.P1809L

c.5426C>T

1 paper

NM_000267.3

p.L1789V

c.5365C>G

7 papers

NM_000267.3

p.Q1785*

c.5353C>T

NM_001042492.3

p.Q1806*

c.5416C>T

1 paper

NM_001042492.3

p.Q1806_P1809del4

c.5416_5426del12

2 papers

NM_000267.3

p.Q1785insFs

c.5353dupC

NM_001042492.3

p.Q1806insFs

c.5416dupC