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.R1362L

c.4085G>T

Surrounding Variants

6 papers

NM_001042492.3

p.R1362Q

c.4085G>A

1 paper

NM_001042492.3

p.R1362P

c.4085G>C

1 paper

NM_001042492.3

p.S1363delFs

c.4087delA

1 paper

NM_001042492.3

p.R1362fs

c.4084_4085fs

114 papers

NM_001042492.3

p.R1362*

c.4084C>T

2 papers

NM_001042492.3

p.R1362_V1364delFs

c.4086_4092del7

2 papers

NM_001042492.3

p.S1363fs

c.4087_4088fs

1 paper

NM_001042492.3

p.S1363delFs

c.4088_4089delGT

1 paper

NM_001042492.3

p.R1362_C1365del4

c.4084_4094del12

4 papers

NM_001042492.3

p.L1361R

c.4082T>G

1 paper

NM_001042492.3

p.L1361_R1362insFs

c.4083_4084insT

1 paper

NM_001042492.3

p.L1361delFs

c.4082delT