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.E989*

c.2965G>T

Surrounding Variants

1 paper

NM_001042492.3

p.E989K

c.2965G>A

1 paper

NM_001042492.3

p.E989_L993insFs

c.2966_2979dup14

1 paper

NM_001042492.3

p.E989_M991del3

c.2965_2972del9

1 paper

NM_001042492.3

p.I988T

c.2963T>C

1 paper

NM_001042492.3

p.T990fs

c.2968_2969fs

1 paper

NM_001042492.3

p.I988_E989insA

c.2962_2966ins3

3 papers

NM_001042492.3

p.T990P

c.2968A>C

1 paper

NM_001042492.3

p.I988V

c.2962A>G

7 papers

NM_001042492.3

p.T990_M991delFs

c.2970_2971delAA

90 papers

NM_001042492.3

p.T990_M991del1

c.2970_2972delAAT

90 papers

NM_001042492.3

p.M992del1

c.2974_2975delATG

2 papers

NM_001042492.3

p.S987N

c.2960G>A