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.N1338H

c.4012A>C

Surrounding Variants

1 paper

NM_001042492.3

p.R1337R

c.4011G>A

1 paper

NM_001042492.3

p.L1339_T1343del5

c.4015_4028del15

2 papers

NM_001042492.3

p.R1337Q

c.4010G>A

1 paper

NM_001042492.3

p.R1337L

c.4010G>T

1 paper

NM_001042492.3

p.R1337fs

c.4009_4010fs

1 paper

NM_001042492.3

p.L1339insFs

c.4016_4017insT

1 paper

NM_001042492.3

p.L1339V

c.4015C>G

9 papers

NM_001042492.3

p.R1337W

c.4009C>T

3 papers

NM_001042492.3

p.L1339F

c.4015C>T

1 paper

NM_001042492.3

p.R1337delFs

c.4010_4011delGG

1 paper

NM_001042492.3

p.L1339delFs

c.4016delT

1 paper

NM_001042492.3

p.Q1336Q

c.4008G>A