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

4 papers

NM_000267.3

p.L1932P

c.5795T>C

NM_001042492.3

p.L1953P

c.5858T>C

Surrounding Variants

7 papers

NM_001042492.3

p.W1952*

c.5856G>A

NM_000267.3

p.W1931*

c.5793G>A

2 papers

NM_001042492.3

p.W1952C

c.5856G>C

2 papers

NM_001042492.3

p.W1952C

c.5856G>T

4 papers

NM_000267.3

p.S1933*

c.5798C>A

NM_001042492.3

p.S1954*

c.5861C>A

1 paper

NM_000267.3

p.N1934insFs

c.5801dupA

4 papers

NM_000267.3

p.S1933*

c.5798C>G

NM_001042492.3

p.S1954*

c.5861C>G

1 paper

NM_000267.3

p.N1934delFs

c.5801delA

10 papers

NM_001042492.3

p.W1952*

c.5855G>A

NM_000267.3

p.W1931*

c.5792G>A

6 papers

NM_000267.3

p.W1931R

c.5791T>A

NM_001042492.3

p.W1952R

c.5854T>A

7 papers

NM_000267.3

p.W1931R

c.5791T>C

NM_001042492.3

p.W1952R

c.5854T>C

1 paper

NM_000267.3

p.N1934fs

c.5800_5801fs

1 paper

NM_001042492.3

p.P1951insFs

c.5852_5853insTT