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.S644F

c.1931C>T

Surrounding Variants

1 paper

NM_001042492.3

p.S644Y

c.1931C>A

2 papers

NM_001042492.3

p.S644C

c.1931C>G

1 paper

NM_001042492.3

p.M645L

c.1933A>C

24 papers

NM_001042492.3

p.M645V

c.1933A>G

1 paper

NM_001042492.3

p.M645L

c.1933A>T

1 paper

NM_001042492.3

p.M645T

c.1934T>C

3 papers

NM_001042492.3

p.M643delFs

c.1929delG

2 papers

NM_001042492.3

p.D646delFs

c.1936delG

1 paper

NM_001042492.3

p.M643fs

c.1927_1928fs

1 paper

NM_001042492.3

p.S644_M645del0

c.1930_1935del6

1 paper

NM_001042492.3

p.M643_D646del4

c.1927_1937del12

1 paper

NM_001042492.3

p.D646H

c.1936G>C