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

3 papers

NM_001042492.3

p.G1277R

c.3829G>C

Surrounding Variants

1 paper

NM_001042492.3

p.G1277_A1281del5

c.3829_3842del15

1 paper

NM_001042492.3

p.G1277A

c.3830G>C

1 paper

NM_001042492.3

p.G1277V

c.3830G>T

4 papers

NM_001042492.3

p.G1277G

c.3831C>T

1 paper

NM_001042492.3

p.N1278delFs

c.3833delA

91 papers

NM_001042492.3

p.R1276Q

c.3827G>A

48 papers

NM_001042492.3

p.R1276P

c.3827G>C

4 papers

NM_001042492.3

p.R1276L

c.3827G>T

1 paper

NM_001042492.3

p.G1277_K1290delFs

c.3830_3870del41

1 paper

NM_001042492.3

p.N1278fs

c.3832_3833fs

1 paper

NM_001042492.3

p.N1278fs

c.3832_3833fs

3 papers

NM_001042492.3

p.R1276fs

c.3826_3827fs